42439 Results for: "2,5-dimethlbenzothiazole"

Supplier: Enzo Life Sciences

Glycogen Synthase Kinase 3β (GSK-3β) is a unique serine/threonine kinase that is inactivated by phosphorylation. In response to insulin binding, PKB/AKT phosphorylates GSK-3β on serine 9, which prevents GSK-3β from phosphorylating glycogen synthase. Unphosphorylated glycogen synthase is active and able to synthesize glycogen. GSK-3β is also unique in that it requires a substrate that has been phosphorylated by a distinct kinase before it can phosphorylate the substrate. This phosphate priming mechanism explains why phosphorylation of serine 9 inactivates GSK-3β. The phosphorylated serine binds to the GSK-3β priming phosphate position and prevents binding of alternative substrates. In addition to insulin signaling, GSK-3β participates in the Wnt signaling pathway, where it forms a complex with axin, beta-catenin and adenomatous polyposis coli (APC) protein. In the presence of Wnts, GSK-3β is unable to phosphorylate beta-catenin, which leads to stabilization of beta-catenin. The Wnt pathway inactivates GSK-3β via the proteins, Dishevelled and FRAT, which disrupt the interaction of GSK-3β with axin, beta-catenin, and APC. Clinically, there is considerable interest in GSK-3β inhibitors because they may mimic the effect of insulin or reduce the hyperphosphorylation of Tau that is observed in Alzheimer's Disease.

Supplier: Prosci

PPIE is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein contains a highly conserved cyclophilin (CYP) domain as well as an RNA-binding domain. It was shown to possess PPIase and protein folding activities and also exhibit RNA-binding activityThe protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein contains a highly conserved cyclophilin (CYP) domain as well as an RNA-binding domain. It was shown to possess PPIase and protein folding activities and also exhibit RNA-binding activity. Three alternatively spliced transcript variants encoding distinct isoforms have been observed.

Supplier: General Separation Technologies, Inc.

Typical application: Alcohols II and III, Amines (low MW), Amines/ Alcohols/ Chlorides, Aromatics analysis: ASTM D16 analytes, Aromatics II, Blood alcohol, Bourbon, Branched alcohols, BTEX, Chlorinated Isooctane, Citronella java oil, Esters III, Ethylene oxide, FAME Standard I, FAMEs (Coca Butter), Fast styrene analysis, Flavor volatiles, Formaldehyde Underivatized, Fragrance allergens, Fragrance Reference Standard II, Free Fatty Acids, Free Organic Acids/C4-C5 Isomers, Impurities in Ethylbenzene, Impurities in mixed xylenes, Impurities in p-Xylene-ASTM D3798, Impurities in styrene, Industrial Solvent, Lavender Oil Spiked with Camphor, Monomers in latex paint by headspace, Mushroom aroma (Synthetic), Nitrosamines, Nutmeg oil, Organic acids, Phenols III, Polyunsaturated fatty acid methyl esters, Rapeseed oil, Rapid analysis of water in organic solvents, Solvents I, II, Spearmint oil, Strawberry syrup, Sulphur and Selenium in Garlic by Headspace, Tramanian lavander oil, Volatile organics, Volatile sulfurs.

Supplier: Tonbo Biosciences

The ACK2 antibody is specific for CD117, also called c-Kit, a 145 kDa cytokine receptor important in the development of hematopoietic stem cells, in oogenesis, and for functional activity of immune cells such as NK and mast cells. c-Kit binds to a ligand known as stem cell factor (SCF), or alternatively as mast cell growth factor. Ligand binding promotes the activation (dimerization) and subsequent tyrosine kinase activity of the c-Kit receptor and triggers key survival, expansion and maturation signals during hematopoietic progenitor cell development. Conversely, shedding of extracellular domain of c-Kit receptor is reported to induce inactivation or apoptosis within these cells. The survival signaling activity of c-Kit confers a proto-oncogenic attribute to the receptor, as overexpression or mutations in this protein are associated with tumor development. The ACK2 antibody is widely utilized as a marker to identify hematopoietic progenitors, and to neutralize receptor-ligand binding in vitro and in vivo. Please choose the appropriate format for each application. In addition, the antibody is reported to be cross-reactive with rat c-Kit and is extensively published for use in this species.

Supplier: Tonbo Biosciences

The GK1.5 antibody reacts with mouse CD4, a 55 kDa protein which acts as a co-receptor for the T cell receptor (TCR) in its interaction with MHC Class II molecules on antigen-presenting cells. The extracellular domain of CD4 binds to the beta-2 domain of MHC Class II, while its cytoplasmic tail provides a binding site for the tyrosine kinase lck, facilitating the signaling cascade that initiates T cell activation. CD4 is typically expressed on thymocytes, certain mature T cell populations such as Th17 and T regulatory (Treg) cells, as well as on dendritic cells. The GK1.5 antibody is widely used as a phenotypic marker for CD4 expression. If used together, the GK1.5 antibody and an alternative antibody, Anti-Mouse CD4 clone RM4-5, will "compete" for binding, i.e. RM4-5 is able to block GK1.5 binding to cells. In contrast, the Anti-Mouse CD4 clone RM4-4 does not block binding of the GK1.5 antibody to cells (Arora S et al. 2006. Infect. Immun. 74: 4339-4348). The GK1.5 antibody is also reported to be cross-reactive with Syrian hamster CD4.

Supplier: Prosci

GTF2IRD1 contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. GTF2IRD1 is related to Williams-Beuren syndrome, a multisystem developmental disorder. Western blots using three different antibodies against three unique regions of this protein target confirm the same apparent molecular weight in our tests. The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants.

Supplier: BIOGEMS INTERNATIONAL INC.

The RA3-6B2 monoclonal antibody specifically reacts with a 220 kDa exon A-restricted epitope on the extracellular domain of mouse CD45 glycoprotein. CD45R/B220 is expressed on all the development stages of B cells, and at a low level on plasma cells and a subset of memory B cells. Low levels of CD45R/B220 are also expressed by some activated T lymphocytes, natural killer cell progenitors in the bone marrow, lymphokine activated killer cells (LAK), T lymphocytes of lpr/lpr mutant mouse, apoptotic T cells of mice injected with bacterial superantigens, and macrophage progenitors in fetal liver.The CD45 molecule is a member of the Protein Tyrosine Phosphatase (PTP) family, because its intracellular region contains two PTP domains. The extracellular region’s variability is caused by different levels of glycosylation, and the splicing of the 4, 5, and 6 exons. The isoforms found in the mouse strains depend on the activation state, maturation stage and cell type, and are very important in B and T lymphocytes antigen receptor signal transduction.The RA3-6B2 antibody inhibits in vivo B lymphocytes responses and enhances isotype switching during in vitro B lymphocyte responses.

Supplier: Rockland Immunochemical

Signal transducer and activator of transcription 3 (Stat3) belongs to a family of cytoplasmic transcription factors that can be activated by phosphorylation by its cell surface receptor. Stat3 plays a key role in many cellular processes such as cell growth and apoptosis. It also mediates cellular responses to interleukins, KITLG/SCF,EGF, IFN-alpha and other growth factors and may mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4. Stat3 forms a homodimer or a heterodimer with a related family member (e.g. STAT1). Activation occurs through phosphorylation of tyrosine 705 and serine 727. Phosphorylation of Stat3 at Tyr705 induces Stat3 dimerization and nuclear translocation. Serine phosphorylation is important for stable DNA-binding of Stat3 homodimers and maximal transcriptional activity. Stat3 can have a dual role in cancer, it has been found that Stat3 protein can promote oncogenesis and have a tumor suppressor role depending upon the mutational background of the tumor.

Supplier: Omega Bio-Tek

The E.Z.N.A.® HP total RNA isolation kit provides a rapid and easy method for RNA isolation from a small amount of cultured eukaryotic cells or tissues

Supplier: Prosci

RNF14 contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein interacts with androgen receptor (AR) and may function as a coactivator that induces AR target gene expression in prostate. A dominant negative mutant of this gene has been demonstrated to inhibit the AR-mediated growth of prostate cancer. This protein also interacts with class III ubiquitin-conjugating enzymes (E2s) and may act as a ubiquitin-ligase (E3) in the ubiquitination of certain nuclear proteins.The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein interacts with androgen receptor (AR) and may function as a coactivator that induces AR target gene expression in prostate. A dominant negative mutant of this gene has been demonstrated to inhibit the AR-mediated growth of prostate cancer. This protein also interacts with class III ubiquitin-conjugating enzymes (E2s) and may act as a ubiquitin-ligase (E3) in the ubiquitination of certain nuclear proteins. Five alternatively spliced transcript variants encoding two distinct isoforms have been reported.

Supplier: Prosci

TMPRSS11D is a trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It is a type II integral membrane protein and has 29-38% identity in the sequence of the catalytic region with human hepsin, enteropeptidase, acrosin, and mast cell tryptase. The noncatalytic region has little similarity to other known proteins. This protein may play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions.This gene encodes a trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It is a type II integral membrane protein and has 29-38% identity in the sequence of the catalytic region with human hepsin, enteropeptidase, acrosin, and mast cell tryptase. The noncatalytic region has little similarity to other known proteins. This protein may play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions.

Supplier: BIOGEMS INTERNATIONAL INC.

The 53-6.7 monoclonal antibody specifically reacts with Ly-2, the 38 kDa alpha chain, and with Lyt-2, the 34 kDa alpha’ chain, of the mouse CD8 antigen. The alpha’ chain is the truncated form of alpha chain, encoded by the same CD8a gene. In CD8a, the alpha and alpha’ chains form heterodimers with CD8b (the beta chains) or homodimers (alpha-alpha), which occur as receptors on the surface of the majority of thymocytes. A subpopulation of mature T lymphocytes expresses the CD8 alpha beta (alpha beta TCR T cells), and a subpopulation of intestinal intraepithelial lymphocytes and dendritic cells express CD8a without CD8b.CD8 interacts with the mouse major histocompatibility complex class I (MHC class I) molecules on antigen-presenting cells or epithelial cells. Its function seems to be to attenuate the CD8-mediated signal for the stimulation of intrathymic T-cell maturation.The 53-6.7 antibody is useful for depleting CD8+ peripheral T lymphocytes. It cross reacts with the alpha- and alpha’-like polypeptides on some thymic and peripheral lymphocytes.BG Violet 450 conjugate is an alternative to the Pacific Blue, eFluor 450, or BD Horizon V450 dyes. It is excited by the violet (405 nm) laser, with a peak emission of 450nm.

Supplier: Zymo Research

The versatile Zymo-Spin II-PX column can be used in microcentrifuges or on vacuum manifolds for the purification of plasmid DNA.

Supplier: Analytik Jena CA

Flexible pipetting platform for fully automated single to multichannel liquid handling.

Supplier: BIOGEMS INTERNATIONAL INC.

The RA3-6B2 monoclonal antibody specifically reacts with a 220 kDa exon A-restricted epitope on the extracellular domain of mouse CD45 glycoprotein. CD45R/B220 is expressed on all the development stages of B cells, and at a low level on plasma cells and a subset of memory B cells. Low levels of CD45R/B220 are also expressed by some activated T lymphocytes, natural killer cell progenitors in the bone marrow, lymphokine activated killer cells (LAK), T lymphocytes of lpr/lpr mutant mouse, apoptotic T cells of mice injected with bacterial superantigens, and macrophage progenitors in fetal liver.The CD45 molecule is a member of the Protein Tyrosine Phosphatase (PTP) family, because its intracellular region contains two PTP domains. The extracellular region’s variability is caused by different levels of glycosylation, and the splicing of the 4, 5, and 6 exons. The isoforms found in the mouse strains depend on the activation state, maturation stage and cell type, and are very important in B and T lymphocytes antigen receptor signal transduction.The RA3-6B2 antibody inhibits in vivo B lymphocytes responses and enhances isotype switching during in vitro B lymphocyte responses.

Supplier: Beckman Coulter

The Avanti™ J-15 series of benchtop centrifuges (refrigerated or ventilated) leverage the ultra harmonic technology, designed to protect your sample and increase workflow time efficiencies.

Supplier: Tonbo Biosciences

The C17.8 antibody is specific for the 40 kDa (p40) protein subunit shared by the cytokines IL-12 and IL-23. To form IL-12, p40 assembles with a separate 35 kDa protein known as p35, resulting in a 70 kDa functional cytokine. IL-12 is secreted by activated monocytes, macrophages, and dendritic cells, and has been shown to target naïve, resting CD4+ T cells to promote their proliferation and secretion of cytokines. IL-23 contains the p40 subunit in combination with a 19 kDa protein chain, p19; its primary source being activated dendritic cells and other antigen-presenting cells. IL-23 appears to target different cell types than IL-12, acting on memory CD4+ T cells to induce a strong proliferative response and contributing to the generation and expansion of Th17 cells. Like the cytokines themselves, the receptors for IL-12 and IL-23 share one subunit, as well as containing distinct cytokine-specific subunits.

Supplier: Prosci

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. CHRNA7 is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from CHRNA7 and a novel FAM7A gene.

Supplier: Prosci

RAD23A is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair (NER). This protein was shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, as well as with ubiquitin protein ligase E6AP, and thus suggests that this protein may be involved in the ubiquitin mediated proteolytic pathway in cells.The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair (NER). This protein was shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, as well as with ubiquitin protein ligase E6AP, and thus suggests that this protein may be involved in the ubiquitin mediated proteolytic pathway in cells.

Supplier: IMPLEN, INC. CA

Implen has become the leading expert for innovative, high-quality spectroscopy instruments and the NanoPhotometer® is trusted by thousands of researchers worldwide.

Supplier: Rockland Immunochemical

TAF10 (TATA-Box Binding Protein Associated Factor 10) is the protein that coordinates activities for the initiation of transcription by RNA polymerase II required for activities of more than 70 polypeptides. TFIID binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as co-activators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the small subunits of TFIID that is associated with a subset of TFIID complexes. Studies with human and mammalian cells have shown that this subunit is required for transcriptional activation by the estrogen receptor, for progression through the cell cycle, and may also be required for certain cellular differentiation programs. Anti-TAF10 Antibody is useful for researchers interested in Chromatin research, transcription factor activity research, and DNA binding and transcription co-activator activity research.

Supplier: Rockland Immunochemical

TP53 (tumor suppressor gene p53) is one of the most well-studied genes that suppresses tumor formation and renders protection against DNA damage by inducing cell cycle arrest, DNA repair, or apoptosis. TP53 signaling is triggered through numerous cellular events ranging from DNA damage to hypoxia, stress and a plethora of other causes. Upon activation, p53 acts as zinc-containing transcriptional regulator and initiates a cascade of events that determines the cellular outcome including cell cycle arrest, apoptosis, senescence, DNA repair, development, differentiation and tissue homeostasis. Cell cycle arrest is induced by p53 via trans-activating genes such as p21 (CDK-inhibitor 1, cyclin dependent kinase) and others. Interestingly, p53 itself is capable of triggering cellular responses (survival or induced cell death) as well. Mutations or deletions in the TP53 gene are present in nearly 50% of human cancers, and primarily results in impaired tumor suppressor function. Anti-p53 (ac Lys305) antibody is ideal for researchers interested in developmental biology, cell growth and cancer research.

Supplier: Rockland Immunochemical

Anti-Nuclear receptor ROR gamma pS203 was designed, produced, and validated as part of the Joy Cappel Young Investigator Award (JCYIA). Nuclear receptor ROR gamma pS203 antibody detects mouse receptor ROR gamma phosphorylated at the serine 203 position. RAR-related orphan receptor gamma is a member of the nuclear receptor family of transcription factors. (ROR-gamma) is a key regulator of cellular differentiation, immunity, peripheral circadian rhythm as well as lipid, steroid, xenobiotics and glucose metabolism. ROR-gamma regulates the circadian expression of clock genes such as CRY1, ARNTL/BMAL1 and NR1D1 in peripheral tissues and in a tissue-selective manner. It is also involved in the regulation of the rhythmic expression of genes involved in glucose and lipid metabolism and is a negative regulator of adipocyte differentiation. It controls adipogenesis as well as adipocyte size and modulates insulin sensitivity in obesity. Isoform 2, ROR-gamma is essential for lymphoid organogenesis, in particular lymph nodes and Peyer's patches. ROR-gamma also plays an important regulatory role in thymopoiesis, and in inhibiting apoptosis of undifferentiated T cells. Anti-nuclear receptor ROR gamma pS203 is ideal for researcher's interested in autoimmune diseases such as psoriasis and rheumatoid arthritis, circadian rhythms, and immune system disorders.

Supplier: IBI Scientific

Select-D Columns are ideal for desalting and removing unincorporated radiolabeled deoxynucleotide triphosphates from end labels, fill in, nick-translation, or random primed DNA labeling reactions

Supplier: Genetex

Ran (ras-related nuclear protein) is a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The Ran protein is also involved in control of DNA synthesis and cell cycle progression. Nuclear localization of Ran requires the presence of regulator of chromosome condensation 1 (RCC1). Mutations in Ran disrupt DNA synthesis. Because of its many functions, it is likely that Ran interacts with several other proteins. Ran regulates formation and organization of the microtubule network independently of its role in the nucleus-cytosol exchange of macromolecules. Ran could be a key signaling molecule regulating microtubule polymerization during mitosis. RCC1 generates a high local concentration of Ran-GTP around chromatin which, in turn, induces the local nucleation of microtubules. Ran is an androgen receptor (AR) coactivator that binds differentially with different lengths of polyglutamine within the androgen receptor. Polyglutamine repeat expansion in the AR is linked to Kennedy's disease (X-linked spinal and bulbar muscular atrophy). Ran coactivation of the AR diminishes with polyglutamine expansion within the AR, and this weak coactivation may lead to partial androgen insensitivity during the development of Kennedy's disease.

Supplier: Prosci

FGG is the gamma component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in its gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia.The protein encoded by this gene is the gamma component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia. Alternative splicing results in two transcript variants encoding different isoforms.

Supplier: Prosci

This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region as well as hematopoietic cell function. This gene is described as a member of the tetraspanin superfamily.This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal transferable fragment 4 (TSSC4), escapes imprinting. This gene may play a role in malignancies and disease that involve this region as well as hematopoietic cell function. This gene is described as a member of the tetraspanin superfamily. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described.

Supplier: Prosci

ANXA7 is a member of the annexin family of calcium-dependent phospholipid binding proteins. The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly (A) signals. The selection of poly (A) signals is independent of the mRNA splicing pattern. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion.

Supplier: Prosci

Mutations in GNAS gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors.This gene has a highly complex imprinted expression pattern. It encodes maternally, paternally, and biallelically expressed proteins which are derived from alternatively spliced transcripts with alternate 5' exons. Each of the upstream exons is within a differentially methylated region, commonly found in imprinted genes. However, the close proximity (14 kb) of two oppositely expressed promoter regions is unusual. In addition, one of the alternate 5' exons introduces a frameshift relative to the other transcripts, resulting in one isoform which is structurally unrelated to the others. An antisense transcript exists, and may regulate imprinting in this region. Mutations in this gene result in pseudohypoparathyroidism type 1a (PHP1a), which has an atypical autosomal dominant inheritance pattern requiring maternal transmission for full penetrance. There are RefSeqs representing four transcript variants of this gene. Other transcript variants including four additional exons have been described; however, their full length sequences have not been determined.

Supplier: Prosci

Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. MMP7 degrades proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal protein domain. The enzyme is involved in wound healing, and studies in mice suggest that it regulates the activity of defensins in intestinal mucosa.Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal protein domain. The enzyme is involved in wound healing, and studies in mice suggest that it regulates the activity of defensins in intestinal mucosa. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3.