GNAS Antilichaam - N-terminalgebied: FITC (ARP41764 T100-FITC)

GNAS complex locus

AHO, GSA, GSP, POH, GPSA, NESP, SCG6, SgVI, GNAS1, PITA3, C20orf45

2778

P63092

NP_000507

Human, Mouse, Rat, Cow, Dog, Guinea Pig, Horse, Rabbit

The immunogen is a synthetic peptide directed towards the N terminal region of human GNAS

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 gene has a highly complex imprinted expression pattern. It encodes maternally, paternally, and biallelically expressed proteins which are derived from alternatively spliced transcripts with alternate 5' exons. Each of the upstream exons is within a differentially methylated region, commonly found in imprinted genes. However, the close proximity (14 kb) of two oppositely expressed promoter regions is unusual. In addition, one of the alternate 5' exons introduces a frameshift relative to the other transcripts, resulting in one isoform which is structurally unrelated to the others. An antisense transcript exists, and may regulate imprinting in this region. Mutations in this gene result in pseudohypoparathyroidism type 1a (PHP1a), which has an atypical autosomal dominant inheritance pattern requiring maternal transmission for full penetrance. There are RefSeqs representing four transcript variants of this gene. Other transcript variants including four additional exons have been described; however, their full length sequences have not been determined.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.

PANX1; AXIN1; UBC; FUS; OPTN; PTGIR; HLA-A; ADRB2; NUCB2; NUCB1; LAMTOR1; SLC25A12; GNAQ; GNA11; UBD; TBXA2R; GNB1; AVPR2; SUMO1; PCK1; Ric8b; GNG2; CALM1; Haus1; Trim69; Cbx1; RIC8A; TTC1; SNX13; ADCY5; CRHR1; PTGDR; TSHR; CAV3; HTR6; RGS2; ADCY6; VIPR1

FITC: Fluorescein Isothiocyanate

Polyclonal Antibody

WB

There is BioGPS gene expression data showing that GNAS is expressed in Jurkat

0.5 mg/ml

Cow: 100%; Dog: 100%; Guinea Pig: 100%; Horse: 100%; Human: 100%; Mouse: 93%; Rabbit: 100%; Rat: 100%

Liquid. Purified antibody supplied in 1x PBS buffer.

All conjugated antibodies should be stored in light-protected vials or covered with a light protecting material (i.e. aluminum foil) . Conjugated antibodies are stable for at least 12 months at 4C. If longer storage is desired (24 months), conjugates may be diluted with up to 50% glycerol and stored at -20C to -80C. Freezing and thawing conjugated antibodies will compromise enzyme activity as well as antibody binding.

46kDa

Bagchi, G., (2008) Cancer Res. 68 (9), 3225-3231

Wet Ice

394

GNAS

GNAS

Rabbit

Guanine nucleotide-binding protein G (s) subunit alpha isoforms short

NM_000516

NPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDEGVRACYERSNEYQ