G protein alpha S (GNAS) Mouse Monoclonal Antibody (Biotin conjugated) [Clone ID: OTI13D7]

Specifications

Product Data
Clone Name	OTI13D7
Applications	IHC, WB
Recommend Dilution	WB 1:500~2000, IHC 1:2000
Reactivity	Human
Host	Mouse
Clonality	Monoclonal
Immunogen	Full length human recombinant protein of human GNAS (NP_000507) produced in HEK293T cell.
Formulation	PBS (pH 7.3) containing 1% BSA, 50% glycerol and 0.02% sodium azide.
Concentration	0.5 mg/ml
Purification	Purified from mouse ascites fluids or tissue culture supernatant by affinity chromatography (protein A/G)
Conjugation	Biotin
Storage Condition	Store at -20°C as received.
Predicted Protein Size	45.5 kDa
Gene Name	GNAS complex locus
Database Link	NP_000507 Entrez Gene 2778 Human UniProt ID P84996
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. [provided by RefSeq, Aug 2012]
Synonyms	AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP; PHP1A; PHP1B; PHP1C; POH; SgVI
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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