GNAS Rabbit anti-Human, Mouse, Polyclonal, Proteintech

Rabbit Polyclonal Antibody

Brand:  Proteintech 10150-2-AP-20UL

Product Code. 16866343

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
• Classification: Polyclonal
• Conjugate: Unconjugated
• Gene: GNAS
• Gene Alias: AHO, C20orf45, GNAS, GNAS complex locus, GNAS1, GPSA, GSA, GSP, NESP, PHP1A, PHP1B, POH
• Host Species: Rabbit
• Purification Method: Antigen Affinity Chromatography
• Regulatory Status: RUO
• Gene ID (Entrez): 14683, 2778
• Content And Storage: -20°C
• Form: Liquid

• Applications: Immunoprecipitation, Immunohistochemistry (Paraffin), Western Blot
• Concentration: 0.17 mg/mL
• Formulation: PBS with 50% glycerol and 0.1% sodium azide; pH 7.3
• Gene Accession No.: P84996, Q6R0H6
• Gene Symbols: Gnas
• Immunogen: GNAS Fusion Protein Ag0197
• Quantity: 20 μL
• Primary or Secondary: Primary
• Target Species: Human, Mouse
• Product Type: Antibody
• Isotype: IgG