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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 contain 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 is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed 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 encoding different isoforms have been found for this gene. 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.
adenylate cyclase-stimulating G alpha protein
, alternative gene product encoded by XL-exon
, extra large alphas protein
, guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1
, guanine nucleotide regulatory protein
, guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas
, neuroendocrine secretory protein
, protein ALEX
, secretogranin VI
, GNAS complex locus
, GTP-binding regulatory protein alpha subunit exon 1
, guanine nucleotide binding protein, alpha stimulating activity polypeptide 1
, guanine nucleotide-binding protein G(s) subunit alpha
, stimulatory GTP binding protein
, alpha-stimulatory subunit of GTP-binding protein
, guanine nucleotide-binding protein, alpha-stimulating activity polypeptide 1
, Gs alpha subunit
, neuroendocrine secretory protein 55
, stimulatory G-protein alpha subunit
, guanine nucleotide-binding protein G(s) subunit alpha isoforms
, GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus
, guanine nucleotide binding protein alpha s
, guanine nucleotide-binding protein G-s, alpha subunit
, guanine nucleotide binding protein, alpha stimulating, olfactory type
, guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas-like
, Galpha s