GNAS Antibody

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.This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contains a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript exists, and this antisense transcript and one of the transcripts are paternally expressed, produce noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants have been found for this gene, but the full-length nature and/or biological validity of some variants have not been determined. Mutations in this 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.

2778

P63092

NP_000507

Human, Dog

Antibody produced in rabbits immunized with a synthetic peptide corresponding a region of human GNAS.

Unconjugated

Primary Antibodies

Cancer, Signal Transduction, Immunology

Antibody is purified by protein A chromatography method.

Cat. No. 1205 - Jurkat Cell Lysate

Batch dependent

Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.

None

Blue Ice

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.

46 kDa

GNAS antibody can be used for detection of GNAS by ELISA at 1:1562500. GNAS antibody can be used for detection of GNAS by western blot at 1.25 μ g/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.

GNAS

GNAS complex locus

Homo sapiens

Bagchi, G., (2008) Cancer Res. 68 (9), 3225-3231.

GNAS, AHO, C20orf45, GNAS1, GPSA, GSA, GSP, MGC33735, PHP1A, PHP1B, POH, dJ309F20.1.1, dJ806M20.3.3, NESP, PHP1C

ELISA, WB

4504047