G protein alpha S (GNAS) Rabbit Polyclonal Antibody

Specifications

Product Data
Recommend Dilution	WB, IHC
Reactivity	Human
Host	Rabbit
Clonality	Polyclonal
Immunogen	The immunogen for anti-GNAS antibody: synthetic peptide directed towards the N terminal of human GNAS. Synthetic peptide located within the following region: VYRATHRLLLLGAGESGKSTIVKQMRILHVNGFNGEGGEEDPQAARSNSD
Formulation	Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
Conjugation	Unconjugated
Storage Condition	Store at -20°C as received.
Predicted Protein Size	46 kDa
Gene Name	GNAS complex locus
Database Link	NP_000507 Entrez Gene 2778 Human UniProt ID P84996
Background	Mutations in GNAS 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. 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 exists, and this antisense transcript and one of the transcripts are paternally expressed, produce 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 have been found for this gene, but the full-length nature and/or biological validity of some variants have not been determined. 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	AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP; PHP1A; PHP1B; PHP1C; POH; SgVI
Note	Immunogen sequence homology: Dog: 100%; Pig: 100%; Rat: 100%; Horse: 100%; Human: 100%; Mouse: 100%; Bovine: 100%; Guinea pig: 100%; Rabbit: 93%
Reference Data
Protein Families	Druggable Genome, Secreted Protein
Protein Pathways	Calcium signaling pathway, Dilated cardiomyopathy, Gap junction, GnRH signaling pathway, Long-term depression, Melanogenesis, Taste transduction, Vascular smooth muscle contraction, Vibrio cholerae infection

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