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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).
Mutations in GNAS gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseous 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: adenylate cyclase-stimulating G alpha protein; alternative gene product encoded by XL-exon; dJ309F20.1.1; dJ806M20.3.3; extra large alphas protein; G protein; G protein subunit alpha S; GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus; GNAS complex locus XLas-like; GNSA1; Gs alpha subunit; GTP-binding protein; guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1; guanine nucleotide binding protein alpha s; guanine nucleotide regulatory protein; guanine nucleotide-binding protein alpha subunit; guanine nucleotide-binding protein G-s, alpha subunit; MGC33735; NESP55; large dense core vesicle secretory protein; neuroendocrine secretory protein 55; NTalphas; NTas; OTTHUMP00000031742; OTTHUMP00000196026; OTTHUMP00000196030; PHP1C; RP4-543J19.4; secretogranin VI; stimulatory G protein of adenylate cyclase, alpha chain; stimulatory G-protein alpha subunit; unnamed protein product; XL2; XLas
Gene Aliases: 5530400H20Rik; A930027G11Rik; AHO; AIMAH1; ALEX; C130027O20Rik; C20orf45; G-alpha-8; Galphas; GNAS1; Gnasxl; Gnpas; GPSA; Gs-alpha; GSA; GSP; NESP; Nesp55; Nespl; Oed-Sml; Oedsml; P1; P2; P3; PHP1A; PHP1B; PITA3; POH; SCG6; SgVI
UniProt ID: (Human) O95467, (Rat) P63095, (Mouse) P63094
Entrez Gene ID: (Human) 2778, (Rat) 24896, (Mouse) 14683
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