GNAS Antibody

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. 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.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.

2778

Q5FWY2

NP_536351

Human, Mouse, Rat, Dog

Antibody produced in rabbits immunized with a synthetic peptide corresponding a region of human GNAS.

Unconjugated

Primary Antibodies

Cancer

Antibody is purified by protein A chromatography method.

Cat. No. 1205 - Jurkat Cell Lysate

Batch dependent

Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.

None

Blue Ice

For short periods of storage (days) store at 4˚ C. For longer periods of storage, store GNAS antibody at -20˚ C. As with any antibody avoid repeat freeze-thaw cycles.

42 kDa, 46 kDa, 46 kDa, 44 kDa, 111 kDa

GNAS antibody can be used for detection of GNAS by ELISA at 1:62500. GNAS antibody can be used for detection of GNAS by western blot at 2.5 μ g/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.

GNAS

GNAS complex locus

Homo sapiens

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

GNAS, AHO, C20orf45, GNAS1, GNASXL, GPSA, GSA, GSP, NESP, NESP55, PHP1A, PHP1B, POH, XL2, XLalphas, PHP1C

ELISA, WB

18426900