GNAS Antilichaam - N-terminalgebied: FITC (ARP42694_T100-FITC)

GNAS complex locus

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

2778

Q5FWY2

NP_536351

Human, Mouse, Rat, Cow, Pig, 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.

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

IHC, WB

GNAS is strongly supported by BioGPS gene expression data to be expressed in MCF7 There is BioGPS gene expression data showing that GNAS is expressed in HepG2, Jurkat

0.5 mg/ml

Cow: 93%; Human: 100%; Mouse: 100%; Pig: 100%; Rabbit: 93%; 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.

42kDa

Linglart, A., (2006) Endocrinology 147 (5), 2253-2262

Wet Ice

380

GNAS

GNAS

Rabbit

GNAS complex locus EMBL AAH89157.2

NM_080426

SGKSTIVKQMRILHVNGFNGDSEKATKVQDIKNNLKEAIETIVAAMSNLV