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]
Applications:Suitable for use in Western Blot.
Other applications not tested.
Recommended Dilution:Western Blot: 1:500-1:2000Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：50ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid PBS, 0.1% sodium azide, 50% glycerol.
Specificity：Recognizes endogenous levels of GNAS. Species Crossreactivity: Human, mouse, rat
Isotype：IgG
Calc Applications Abbrev：WB
Calc Crossreactivity：Hu Mo Rt
Immunogen：Recombinant full length Human GNAS.
Shelf Life：1year
Swiss Prot Number：P63092
EU Commodity Code：30021010
商品名：GNAS (Adenylate Cyclase stimulating G alpha Protein, AHO, Alternative Gene product encoded by XL exon, C20orf45, dJ309F20.1.1, dJ806M20.3.3, Extra large alphas Protein, GNAS, GNAS Complex locus, GNAS1, GPSA, Gs alpha Subunit, GSA, GSP, Guanine Nucleotide Binding Protein (G Protein) alpha stimulating activity Polypeptide 1, Guanine Nucleotide Binding Protein alpha stimulating activity Polypeptide 1, Guanine Nucleotide Binding Protein G(s) Subunit alpha Isoforms short, Guanine Nucleotide Binding Protein G(s) Subunit alpha Isoforms XLas, Guanine Nucleotide Regulatory Protein, MGC33735, NESP, NESP55, Neuroendocrine secretory Protein, PHP1A, PHP1B, PHP1C, POH, Protein ALEX, SCG6, Secretogranin VI, XLalphas, XLas,) 50ul
