GNAS Rabbit anti-Human, Mouse, Polyclonal, Proteintech

Rabbit Polyclonal Antibody

Product Code	Brand	Quantity
16866343	Proteintech 10150-2-AP-20UL	20 μL
16856343	Proteintech 10150-2-AP-150UL	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.

Specifications

• Antigen: GNAS
• Applications: Immunoprecipitation, Immunohistochemistry (Paraffin), Western Blot
• Conjugate: Unconjugated
• Host Species: Rabbit
• Target Species: Human, Mouse
• Gene Accession No.: P84996, Q6R0H6
• Gene ID (Entrez): 14683, 2778
• Immunogen: GNAS Fusion Protein Ag0197
• Primary or Secondary: Primary
• Content And Storage: -20°C
• Gene: GNAS

• Concentration: 0.17 mg/mL
• Classification: Polyclonal
• Form: Liquid
• Regulatory Status: RUO
• Formulation: PBS with 50% glycerol and 0.1% sodium azide; pH 7.3
• Gene Alias: AHO, C20orf45, GNAS, GNAS complex locus, GNAS1, GPSA, GSA, GSP, NESP, PHP1A, PHP1B, POH
• Gene Symbols: Gnas
• Isotype: IgG
• Purification Method: Antigen Affinity Chromatography
• Product Type: Antibody