GNAS Mouse Monoclonal Antibody [A8F12] (HA601074)

UNIPROT #

P63092

PROTEIN NAME

GNAS

SYNONYMS

Adenylate cyclase stimulating G alpha protein antibody;AHO antibody;Alternative gene product encoded by XL exon antibody;C20orf45 antibody;dJ309F20.1.1 antibody;dJ806M20.3.3 antibody;Extra large alphas protein antibody;GNAS antibody;GNAS complex locus antibody;GNAS1 antibody;GPSA antibody;Gs alpha subunit antibody;GSA antibody;GSP antibody;Guanine nucleotide binding protein (G protein) alpha stimulating activity polypeptide 1 antibody;Guanine nucleotide binding protein alpha stimulating activity polypeptide 1 antibody;Guanine nucleotide binding protein G(s) subunit alpha isoforms short antibody;Guanine nucleotide binding protein G(s) subunit alpha isoforms XLas antibody;Guanine nucleotide regulatory protein antibody;MGC33735 antibody;NESP antibody;NESP55 antibody;Neuroendocrine secretory protein antibody;PHP1A antibody;PHP1B antibody;PHP1C antibody;POH antibody;Protein ALEX antibody;Protein GNAS antibody;Protein NESP55 antibody;SCG6 antibody;Secretogranin VI antibody;XLalphas antibody;XLas antibody

SUBCELLULAR LOCATION

Cell membrane.

FUNCTION

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.