GNAS (R201C Mutant) Antibodies

Target Information

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, which is commonly found in imprinted genes and correlates with transcript expression. This gene has an antisense transcript. One of the transcripts produced from this locus, and the antisense transcript, are both 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. Additional transcript variants have been found for this gene, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2015]

Synonyms

5530400H20Rik; A930027G11Rik; alpha stimulating) complex locus; C130027O20Rik; Galphas; GNAS (guanine nucleotide binding protein; Gnas1; Gnasxl; GPSA; Gsa; Gs-alpha; GSP; Nesp; Nesp55; Nespl; Oedsml; Oed-Sml; P1; P2; P3; PHP1A; PHP1B; POH; SCG6