GNAS Mouse anti-Human, Clone:2A2B7, Abnova™

Description

• 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 contains 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
• [provided by RefSeq]