GNAS Mouse anti-Human, Porcine, Clone: 1A9C10, Proteintech

Mouse Monoclonal Antibody

Catalog Number	Mfr. No.	Quantity
50-173-6686	Proteintech Group Inc 662531IG150UL	150 μL

Description

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 domit 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.

Specifications

• Antigen: GNAS
• Concentration: 1 mg/mL
• Classification: Monoclonal
• Form: Liquid
• Regulatory Status: RUO
• Formulation: PBS with 50% glycerol and 0.02% sodium azide; pH 7.3
• Gene Alias: AHO, C20orf45, GNAS, GNAS complex locus, GNAS1, GPSA, GSA, GSP, NESP, PHP1A, PHP1B, POH, Protein ALEX
• Gene Symbols: GNAS
• Isotype: IgG2b
• Purification Method: Protein A
• Product Type: Antibody

• Clone: 1A9C10
• Applications: Immunohistochemistry (Paraffin), Western Blot
• Conjugate: Unconjugated
• Host Species: Mouse
• Target Species: Human, Pig
• Gene Accession No.: P29797, P84996
• Gene ID (Entrez): 100049657, 2778
• Immunogen: GNAS Fusion Protein Ag20530
• Primary or Secondary: Primary
• Content And Storage: -20°C
• Gene: GNAS