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Specifications
- Antibody type:Primary
- Antigen name:GNAS complex locus
- Clonality:Polyclonal
- Gene ID:Q5FWY2
- Host:Rabbit
- Reactivity:Human
- Antigen symbol:GNAS
- Conjugation:Unconjugated
- ELISA:Yes
- ImmunoChemistry:Yes
- Size:100 ul
- Western blot:Yes
- Form:Liquid
- Antigen synonyms:GNAS
- Storage buffer:Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
- Molecular weight:42 kDa
- Storage temperature:For short periods of storage (days) store at 4 °C. For longer periods of storage, store GNAS antibody at –20 °C. As with any antibody avoid repeat freeze-thaw cycles.
- Shipping temperature:4 °C
- Immunogen:Antibody produced in rabbits immunized with a synthetic peptide corresponding a region of human GNAS.
- Purification:Antibody is purified by protein A chromatography method.
- Cat. no.:10108-820
- Supplier No.:29-791
Specifications
About this item
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.
GNAS antibody can be used for detection of GNAS by ELISA at 1:312500. GNAS antibody can be used for detection of GNAS by western blot at 2.5 ?g/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.
Antibody is purified by protein A chromatography method.
Antibody is lyophilized in PBS buffer with 2% sucrose. Add 100 ?L of distilled water. Final antibody concentration is 1 mg/mL.
Aliquot and store at -20°C or below. Avoid multiple freeze-thaw cycles.
Type: Primary
Antigen: GNAS
Clonality: Polyclonal
Clone:
Conjugation: Unconjugated
Epitope:
Host: Rabbit
Isotype:
Reactivity: Human