GNAS Proteins

Protein Information

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.

Synonyms

5530400H20Rik; A930027G11Rik; Adenylate cyclase-stimulating G alpha protein; AHO; ALEX; GNAS; NESP55; alpha-stimulatory subunit of GTP-binding protein; alternative gene product encoded by XL-exon; C130027O20Rik; C20orf45; dJ309F20.1.1; dJ806M20.3.3; Extra large alphas protein; G protein alpha subunit; G protein subunit alpha S; GAIPIRRH peptide; G-alpha-8; Galphas; Gnas; GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus; gnas {ECO:0000312; GNAS complex locus; GNAS complex locus; SCG6 (secretogranin VI); GNAS1; Gnasxl; Gnpas; GPIPIRRH peptide; GPSA; Gs alpha subunit; GSA; G-SALPHA60A; GSP; GTP-binding regulatory protein (G-s-alpha).; GTP-binding regulatory protein alpha subunit exon 1; guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1; guanine nucleotide binding protein alpha s; guanine nucleotide binding protein alpha subunit; guanine nucleotide binding protein, alpha stimulating activity polypeptide 1; guanine nucleotide regulatory protein; guanine nucleotide-binding protein G(s) subunit alpha; guanine nucleotide-binding protein G(s) subunit alpha isoforms; 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) subunit alpha; guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas; guanine nucleotide-binding protein G(s) subunit alpha; SCG6 (secretogranin VI); guanine nucleotide-binding protein G(s), alpha subunit; guanine nucleotide-binding protein Gs alpha1; guanine nucleotide-binding protein G-s, alpha subunit; guanine nucleotide-binding protein, alpha-stimulating activity polypeptide 1; LHAL tetrapeptide; LSAL tetrapeptide; MGC33735; MNCb-5546; Nesp; NESP55; Nespl; neuroendocrine secretory protein; neuroendocrine secretory protein 55; Oedsml; Oed-Sml; OTTHUMP00000031742; OTTHUMP00000196026; OTTHUMP00000196030; P1; P2; P3; PHP1A; PHP1B; PHP1C; POH; PORGSA1; Protein ALEX; protein ALEX; protein GNAS; protein NESP55; protein ALEX; protein GNAS; protein SCG6 (secretogranin VI); RGD:2716}; RP4-543J19.4; SCG6; secretogranin VI; SgVI; stimulatory G-protein alpha subunit; stimulatory GTP binding protein; unnamed protein product; XLalphas; XLas