G protein alpha S (GNAS) Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	WB
Recommend Dilution	WB,1:500 - 1:2000
Reactivity	Human, Mouse
Modifications	Unmodified
Host	Rabbit
Clonality	Polyclonal
Immunogen	Recombinant protein of human GNAS
Formulation	Buffer: PBS with 0.02% sodium azide,50% glycerol,pH7.3.
Concentration	lot specific
Purification	Affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20℃. Avoid freeze / thaw cycles.
Predicted Protein Size	28kDa/44kDa/45kDa/77kDa/109kDa/111kDa
Gene Name	GNAS complex locus
Database Link	Entrez Gene 2778 Human UniProt ID O95467
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.
Synonyms	AHO; C20orf45; GNAS1; GNASXL; GPSA; GSA; GSP; MGC33735; NESP; NESP55; OTTHUMP00000031742; OTTHUMP00000196026; OTTHUMP00000196030; PHP1A; PHP1B; POH; SCG6; XLalphas
Reference Data

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