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gnas

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Official Full Name
GNAS complex locus
Background
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.
Synonyms
GNAS; GNAS complex locus; Adenylate cyclase stimulating G alpha protein; Guanine nucleotide binding protein G(s) alpha subunit; neuroendocrine secretory protein 55; adenylate cyclase-stimulating G alpha protein; guanine nucleotide-binding protein G(s) subunit alpha isoforms; guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1; GNAS1; GNAS1, guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1; protein ALEX; GNASXL; GPSA; NESP; NESP55; SCG6; secretogranin VI; extra large alphas protein; neuroendocrine secretory protein; guanine nucleotide regulatory protein; alternative gene product encoded by XL-exon; guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas; AHO; GSA; GSP; POH; PHP1A; PHP1B; PHP1C; C20orf45; MGC33735; NESP55, NESP, GNASXL, GPSA, SCG6; G-SALPHA60A

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