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.
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 subunit alpha S; GPIPIRRH peptide; guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1; guanine nucleotide regulatory protein; Guanine nucleotide-binding protein G(s) subunit alpha isoforms short; Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas; LHAL tetrapeptide; MGC33735; NESP55; neuroendocrine secretory protein; Neuroendocrine secretory protein 55; OTTHUMP00000031742; OTTHUMP00000196026; OTTHUMP00000196030; PHP1C; Protein ALEX; RP4-543J19.4; secretogranin VI; XLalphas; XLas
Gene Aliases: AHO; C20orf45; GNAS; GNAS1; GPSA; GSA; GSP; NESP; POH; SCG6; SgVI
UniProt ID: (Human) P84996
Entrez Gene ID: (Human) 2778
Molecular Function: heterotrimeric G-protein