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This Antibody was verified by Knockdown to ensure that the antibody binds to the antigen stated.
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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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 subunit alpha S; G-alpha-8; GNAS; GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus; gnas {ECO:0000312|RGD:2716}; Gs alpha subunit; 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 G(s) subunit alpha isoforms short; Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas; guanine nucleotide-binding protein G-s, alpha subunit; MGC33735; NESP55; neuroendocrine secretory protein; Neuroendocrine secretory protein 55; OTTHUMP00000031742; OTTHUMP00000196026; OTTHUMP00000196030; PHP1C; Protein ALEX; RP4-543J19.4; secretogranin VI; stimulatory G-protein alpha subunit; XLalphas; XLas
基因别名: 5530400H20Rik; A930027G11Rik; AHO; C130027O20Rik; C20orf45; Galphas; GNAS; GNAS1; Gnasxl; Gnpas; GPSA; GSA; GSP; MNCb-5546; NESP; Nesp55; Nespl; Oed-Sml; Oedsml; P1; P2; P3; PHP1A; PHP1B; POH; SCG6; SgVI
UniProt ID: (Human) P84996, (Mouse) Q6R0H6, (Rat) P63095
Entrez Gene ID: (Human) 2778, (Mouse) 14683, (Rat) 24896