31035 Results for: "Neu5Ac[1Me,478]alpha(2-6)Gal[2400,3Bn]-beta-MP"

Supplier: Bioss

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq].

Supplier: Bioss

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq].

Supplier: Bioss

Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of these variants has not been determined. [provided by RefSeq, Jul 2008].

Supplier: Prosci

DFF40 Antibody: Apoptosis is related to many diseases and induced by a family of cell death receptors and their ligands. Cell death signals are transduced by death domain containing adapter molecules and members of the caspase family of proteases. These death signals finally cause the degradation of chromosomal DNA by activated DNase. A mouse DNase that causes DNA fragmentation was identified recently and designated CAD for caspase activated deoxyribonuclease. The human homologue of mouse CAD was more recently identified by three groups independently and termed CPAN, DFF40, and human CAD, respectively. DFF45/ICAD is the inhibitory protein of DFF40/CAD and forms complex with DFF40/CAD. Upon cleavage of DFF45/ICAD by activated caspase, DFF40/CAD is released and activated and eventually causes the degradation of DNA in the nuclei. Activation of DFF40/CAD, which causes DNA degradation, is the hallmark of apoptotic cell death.

Supplier: Prosci

Human Chemokine (C-C Motif) Ligand 23 (CCL23) is a small cytokine belonging to the CC chemokine family. CCL23 is also known as myeloid progenitor inhibitory factor MPIF-1, CK8 and SCYA23. CCL23 cDNA encodes a 120 amino acid residue precursor protein with a putative 21 amino acid residue signal peptide that is cleaved to generate a 99 amino acid residue mature CCL23 (amino acids 22 -120). Additional N-terminal Processing of the 99 amino acid residue variant can generate a 75 amino acid residue peptide (amino acid 46-120) that is significantly more active than the 99 amino acid residue variant. CCL23 binds to CCR1 with high affinity and has chemotactic activity for monocytes, dendritic cells, and osteoclast precursors. CCL23 enhances angiogenesis of endothelial cells, but reduces the proliferation of progenitor cells giving rise to granulocyte and monocyte lineages.

Supplier: Bioss

The genus Salmonella is a member of the family Enterobacteriaceae. The genus is composed of Gram-negative bacilli that are facultative and flagellated (motile). Salmonellae possess 3 major antigens; the "H" or flagellar antigen (phase 1 & 2), the "O" or somatic antigen (part of the LPS moiety) and the "Vi" or capsular antigen (referred to as "K" in other Enterobacteriaceae). Salmonellae also possess the LPS endotoxin characteristic of Gram-negative bacteria. This LPS is composed of an "O" polysaccharide ("O" antigen) an "R" core and the endotoxic inner "Lipid A". Endotoxins evoke fever and can activate complement, kinin and clotting factors. Until recently the most common cause of food poisoning by Salmonella species was due to S. Typhimurium. As its name suggests, it causes a typhoid-like disease in mice. In humans S. Typhimurium does not cause as severe disease as S. Typhi, and is not normally fatal. The disease is characterized by diarrhea, abdominal cramps, vomiting and nausea, and generally lasts up to 7 days.

Supplier: Bioss

Members of the ligand-gated ion channel receptor family are characterized by their fast transmitting response to neurotransmitters. Two important members of this family are the nicotinic acetylcholine and glutamate receptors, both of which are composed of five homologous subunits forming a transmembrane aqueous pore. These transmembrane receptors change conformation in response to their cognate neurotransmitter. Nicotinic acetylcholine receptors (AChRs) are found at the postsynaptic membrane of the neuromuscular junction and bind acetylcholine molecules, allowing ions to move through the pore. Glutamate receptors are found in the postsynaptic membrane of cells in the central nervous system. The activity that is generated at the synapse by the binding of acetylcholine is terminated by acetylcholinesterase, an enzyme that rapidly hydrolyzes acetylcholine. AChR?, also known as LNCR2, PAOD2, NACHRA3 or CHRNA3, is a 505 amino acid multi-pass membrane protein that belongs to the ligand-gated ion channel receptor family and may play a role in neurotransmission.

Supplier: Bioss

Members of the ligand-gated ion channel receptor family are characterized by their fast transmitting response to neurotransmitters. Two important members of this family are the nicotinic acetylcholine and glutamate receptors, both of which are composed of five homologous subunits forming a transmembrane aqueous pore. These transmembrane receptors change conformation in response to their cognate neurotransmitter. Nicotinic acetylcholine receptors (AChRs) are found at the postsynaptic membrane of the neuromuscular junction and bind acetylcholine molecules, allowing ions to move through the pore. Glutamate receptors are found in the postsynaptic membrane of cells in the central nervous system. The activity that is generated at the synapse by the binding of acetylcholine is terminated by acetylcholinesterase, an enzyme that rapidly hydrolyzes acetylcholine. AChR?, also known as LNCR2, PAOD2, NACHRA3 or CHRNA3, is a 505 amino acid multi-pass membrane protein that belongs to the ligand-gated ion channel receptor family and may play a role in neurotransmission.

Supplier: Prosci

ICAD Antibody: Apoptosis is related to many diseases and induced by a family of cell death receptors and their ligands. Cell death signals are transduced by death domain containing adapter molecules and members of the caspase family of proteases. These death signals finally cause the degradation of chromosomal DNA by activated DNase. A human DNA fragmentation factor (DFF) was identified recently which was cleaved by caspase-3 during apoptosis. Mouse homologue of human DFF was identified as a DNase inhibitor designated ICAD, for inhibitor of caspase-activated DNase. Upon cleavage of DFF/ICAD, a caspase activated deoxyribonuclease (CAD) is released and activated and eventually causes the degradation of DNA in the nuclei. Therefore, the cleavage of CAD inhibitor molecule DFF/ICAD, which causes DNase activation and DNA degradation, is the hallmark of apoptotic cell death.

Supplier: Bioss

Members of the ligand-gated ion channel receptor family are characterized by their fast transmitting response to neurotransmitters. Two important members of this family are the nicotinic acetylcholine and glutamate receptors, both of which are composed of five homologous subunits forming a transmembrane aqueous pore. These transmembrane receptors change conformation in response to their cognate neurotransmitter. Nicotinic acetylcholine receptors (AChRs) are found at the postsynaptic membrane of the neuromuscular junction and bind acetylcholine molecules, allowing ions to move through the pore. Glutamate receptors are found in the postsynaptic membrane of cells in the central nervous system. The activity that is generated at the synapse by the binding of acetylcholine is terminated by acetylcholinesterase, an enzyme that rapidly hydrolyzes acetylcholine. AChR?, also known as LNCR2, PAOD2, NACHRA3 or CHRNA3, is a 505 amino acid multi-pass membrane protein that belongs to the ligand-gated ion channel receptor family and may play a role in neurotransmission.

Supplier: Bioss

Members of the ligand-gated ion channel receptor family are characterized by their fast transmitting response to neurotransmitters. Two important members of this family are the nicotinic acetylcholine and glutamate receptors, both of which are composed of five homologous subunits forming a transmembrane aqueous pore. These transmembrane receptors change conformation in response to their cognate neurotransmitter. Nicotinic acetylcholine receptors (AChRs) are found at the postsynaptic membrane of the neuromuscular junction and bind acetylcholine molecules, allowing ions to move through the pore. Glutamate receptors are found in the postsynaptic membrane of cells in the central nervous system. The activity that is generated at the synapse by the binding of acetylcholine is terminated by acetylcholinesterase, an enzyme that rapidly hydrolyzes acetylcholine. AChR?, also known as LNCR2, PAOD2, NACHRA3 or CHRNA3, is a 505 amino acid multi-pass membrane protein that belongs to the ligand-gated ion channel receptor family and may play a role in neurotransmission.

Supplier: Prosci

Thyroid hormones are essential for development of the central nervous system and deficits in these hormones during development affects such cognitive functions as learning and memory (Ambrogini et al., 2005; Chan and Kilby, 2000). Thyroid hormones exert their physiological role mainly through binding to specific nuclear receptors including the predominant isoforms of thyroid hormone receptors TRalpha1, TRalpha2, TRbeta1 and TRbeta2. TRalpha1, TRbeta1 and TRbeta2 bind T3 with high affinity and also bind to thyroid hormone response elements (TREs) on chromatin to regulate the transcriptional processes in several target tissues, including adult rat brain (Constantinou et al., 2005).

Supplier: Prosci

The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein.The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are exclusively non-canonical.

Supplier: Prosci

CHRNA9 is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor superfamily. CHRNA9 is a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. It is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea.This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. The protein is additionally expressed in keratinocytes, the pituitary gland, B-cells and T-cells.

Supplier: Bioss

The genus Salmonella is a member of the family Enterobacteriaceae. The genus is composed of Gram-negative bacilli that are facultative and flagellated (motile). Salmonellae possess 3 major antigens; the "H" or flagellar antigen (phase 1 & 2), the "O" or somatic antigen (part of the LPS moiety) and the "Vi" or capsular antigen (referred to as "K" in other Enterobacteriaceae). Salmonellae also possess the LPS endotoxin characteristic of Gram-negative bacteria. This LPS is composed of an "O" polysaccharide ("O" antigen) an "R" core and the endotoxic inner "Lipid A". Endotoxins evoke fever and can activate complement, kinin and clotting factors. Until recently the most common cause of food poisoning by Salmonella species was due to S. Typhimurium. As its name suggests, it causes a typhoid-like disease in mice. In humans S. Typhimurium does not cause as severe disease as S. Typhi, and is not normally fatal. The disease is characterized by diarrhea, abdominal cramps, vomiting and nausea, and generally lasts up to 7 days.

Supplier: Prosci

Mimitin Antibody: Mimitin, a small mitochondrial protein, whose transcription is directly stimulated by c-Myc, is highly expressed in 80% of esophageal squamous cell carcinomas (ESCC). Suppression of Mimitin expression by RNA interference had no effect in cancerous cell lines such as human cervical carcinoma or hepatocarcinoma cell lines, but caused a decrease in cell proliferation in human glioblastoma, embryonic lung fibroblastic cells, and ESCC, suggesting Mimitin may play a special role in these types of cells. Mimitin expression is also regulated by MAPK kinases and IL-1, but not through the NF-kappa B-related pathway. It will interact with the microtubular protein MAP1S and can affect the activities of caspase-3 and -7 in cells stimulated to develop apoptosis. Other experiments suggest that Mimitin also acts as a molecular chaperone for the assembly of the mitochondrial complex I.

Supplier: Prosci

GALNT10 Antibody: Protein glycosylation is an important biological process that is carried out by a large family of glycosyltransferases that catalyze the synthesis of oligosaccharides and glycoconjugates. Polypeptide GalNAc transferases initiate the synthesis of mucin-type oligosaccharides by transferring GalNAc from UDP-GalNAc to the hydroxyl group of either a serine or threonine residue on the polypeptide acceptor. Polypeptide galactoaminyltransferase 10 (GALNT10) belongs to the polypeptide N-acetylgalactosaminyl-transferase (pp-GalNAc-T) protein family. Following expression in insect cells, recombinant GALNT10 showed significant GalNAcT activity toward mucin-derived peptides, and it utilized both non-glycosylated and glycosylated peptide substrates. GALNT10 mRNA is highly expressed in several distinct hypothalamic, thalamic, and amygdaloid nuclei in mouse brain. At least four isoforms of GALNT10 are known to exist.

Supplier: BIOGEMS INTERNATIONAL INC.

The N418 monoclonal antibody specifically reacts with the integrin αx chain of the mouse CD11c, which is expressed on dendritic cells, CD4-/CD8+ intestinal intraepithelial lymphocytes (IEL) and some activated T lymphocytes. Low levels of CD11c were detected on mouse splenic natural killer cells and on the monocyte/macrophage lineage cells.CD11c expression is upregulated on IEL and T lymphocytes after activation. It binds to CD54, fibrinogen and iC3b and influences the leukocyte adhesive interactions. The N418 antibody binds to CD11c on splenic dendritic cells of the mouse in the T-dependent areas. It also contributes to the binding of iC3b.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: Bioss

Members of the ligand-gated ion channel receptor family are characterized by their fast transmitting response to neurotransmitters. Two important members of this family are the nicotinic acetylcholine and glutamate receptors, both of which are composed of five homologous subunits forming a transmembrane aqueous pore. These transmembrane receptors change conformation in response to their cognate neurotransmitter. Nicotinic acetylcholine receptors (AChRs) are found at the postsynaptic membrane of the neuromuscular junction and bind acetylcholine molecules, allowing ions to move through the pore. Glutamate receptors are found in the postsynaptic membrane of cells in the central nervous system. The activity that is generated at the synapse by the binding of acetylcholine is terminated by acetylcholinesterase, an enzyme that rapidly hydrolyzes acetylcholine. AChR?, also known as LNCR2, PAOD2, NACHRA3 or CHRNA3, is a 505 amino acid multi-pass membrane protein that belongs to the ligand-gated ion channel receptor family and may play a role in neurotransmission.

Supplier: Bioss

The genus Salmonella is a member of the family Enterobacteriaceae. The genus is composed of Gram-negative bacilli that are facultative and flagellated (motile). Salmonellae possess 3 major antigens; the "H" or flagellar antigen (phase 1 & 2), the "O" or somatic antigen (part of the LPS moiety) and the "Vi" or capsular antigen (referred to as "K" in other Enterobacteriaceae). Salmonellae also possess the LPS endotoxin characteristic of Gram-negative bacteria. This LPS is composed of an "O" polysaccharide ("O" antigen) an "R" core and the endotoxic inner "Lipid A". Endotoxins evoke fever and can activate complement, kinin and clotting factors. Until recently the most common cause of food poisoning by Salmonella species was due to S. Typhimurium. As its name suggests, it causes a typhoid-like disease in mice. In humans S. Typhimurium does not cause as severe disease as S. Typhi, and is not normally fatal. The disease is characterized by diarrhea, abdominal cramps, vomiting and nausea, and generally lasts up to 7 days.

Supplier: Prosci

GALNT10 Antibody: Protein glycosylation is an important biological process that is carried out by a large family of glycosyltransferases that catalyze the synthesis of oligosaccharides and glycoconjugates. Polypeptide GalNAc transferases initiate the synthesis of mucin-type oligosaccharides by transferring GalNAc from UDP-GalNAc to the hydroxyl group of either a serine or threonine residue on the polypeptide acceptor. Polypeptide galactoaminyltransferase 10 (GALNT10) belongs to the polypeptide N-acetylgalactosaminyl-transferase (pp-GalNAc-T) protein family. Following expression in insect cells, recombinant GALNT10 showed significant GalNAcT activity toward mucin-derived peptides, and it utilized both non-glycosylated and glycosylated peptide substrates. GALNT10 mRNA is highly expressed in several distinct hypothalamic, thalamic, and amygdaloid nuclei in mouse brain. At least four isoforms of GALNT10 are known to exist.

Supplier: BIOGEMS INTERNATIONAL INC.

The PC61.5 antibody specifically reacts with mouse CD25, the 55 kDa low-affinity Interleukin-2 Receptor α chain (IL-2R α), expressed on early progenitors of T and B lineage, and on B and T cells. Together with CD122 (IL-2 Receptor β) and CD 132 (IL-2 Receptor γc, the common gamma chain), CD25 forms high-affinity receptor complexes for IL-2. Resting B and T cells and natural killer cells do not express IL-2Rα. Cd25 is also expressed on the dendritic cells, and it enhances lymphocyte differentiation and activation.The PC61.5 antibody blocks the binding of IL-2 to both high-affinity and low-affinity receptors.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: Prosci

Podoplanin is a type-1 transmembrane protein that belongs to Podoplanin family. PDPN expressed in various specialized cell types throughout the body. It highly expressed in placenta, lung, skeletal muscle and brain, weakly expressed in brain, kidney and liver. In placenta, PDPN expressed on the apical plasma membrane of endothelium, in lung, expressed in alveolar epithelium. PDPN physiological function is related to its mucin-type character. PDPN may be involved in cell migration and/or actin cytoskeleton organization. When expressed in keratinocytes, induces changes in cell morphology with transfected cells showing an elongated shape, numerous membrane protrusions, and major reorganization of the actin cytoskeleton, increased motility and decreased cell adhesion. It requires for normal lung cell proliferation and alveolus formation at birth and Induces platelet aggregation. Nevertheless, it doesn’t have any effect on amino acid transport and the aquaporin-type water channels.

Supplier: Bioss

Members of the ligand-gated ion channel receptor family are characterized by their fast transmitting response to neurotransmitters. Two important members of this family are the nicotinic acetylcholine and glutamate receptors, both of which are composed of five homologous subunits forming a transmembrane aqueous pore. These transmembrane receptors change conformation in response to their cognate neurotransmitter. Nicotinic acetylcholine receptors (AChRs) are found at the postsynaptic membrane of the neuromuscular junction and bind acetylcholine molecules, allowing ions to move through the pore. Glutamate receptors are found in the postsynaptic membrane of cells in the central nervous system. The activity that is generated at the synapse by the binding of acetylcholine is terminated by acetylcholinesterase, an enzyme that rapidly hydrolyzes acetylcholine. AChR?, also known as LNCR2, PAOD2, NACHRA3 or CHRNA3, is a 505 amino acid multi-pass membrane protein that belongs to the ligand-gated ion channel receptor family and may play a role in neurotransmission.

Supplier: Prosci

DFF45 Antibody: Apoptosis is related to many diseases and induced by a family of cell death receptors and their ligands. Cell death signals are transduced by death domain containing adapter molecules and members of the caspase family of proteases. These death signals finally cause the degradation of chromosomal DNA by activated DNase. A human 45 kDa DNA fragmentation factor (DFF45) was identified recently which was cleaved by caspase-3 during apoptosis. Mouse homologue of human DFF45 was identified as a DNase inhibitor designated ICAD. Upon cleavage of DFF45/ICAD, a caspase activated deoxyribonuclease (DFF40/CAD) is released and activated and eventually causes the degradation of DNA in the nuclei. Therefore, the cleavage of DFF45/ICAD, which causes DFF40/CAD activation and DNA degradation, is the hallmark of apoptotic cell death.

Supplier: Prosci

ICAD Antibody: Apoptosis is related to many diseases and induced by a family of cell death receptors and their ligands. Cell death signals are transduced by death domain containing adapter molecules and members of the caspase family of proteases. These death signals finally cause the degradation of chromosomal DNA by activated DNase. A human DNA fragmentation factor (DFF) was identified recently which was cleaved by caspase-3 during apoptosis. Mouse homologue of human DFF was identified as a DNase inhibitor designated ICAD, for inhibitor of caspase-activated DNase. Upon cleavage of DFF/ICAD, a caspase activated deoxyribonuclease (CAD) is released and activated and eventually causes the degradation of DNA in the nuclei. Therefore, the cleavage of CAD inhibitor molecule DFF/ICAD, which causes DNase activation and DNA degradation, is the hallmark of apoptotic cell death.

Supplier: Bioss

Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of these variants has not been determined. [provided by RefSeq, Jul 2008].

Supplier: Bioss

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq].

Supplier: Bioss

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq].

Supplier: Bioss

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq].