GNAS Rabbit anti-Human, Polyclonal, Invitrogen™

Rabbit Polyclonal Antibody

Supplier:  Thermo Scientific PA571778

Catalog No. PIPA571778

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
• Classification: Polyclonal
• Conjugate: Unconjugated
• Gene: GNAS
• Gene Alias: RP4-543J19.4; AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP; PHP1A; PHP1B; PHP1C; POH; adenylate cyclase-stimulating G alpha protein; alternative gene product encoded by XL-exon; extra large alphas protein; guanine nucleotide binding protein (G protein); alpha stimulating activity polypeptide 1; guanine nucleotide regulatory protein; guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas; neuroendocrine secretory protein; protein ALEX; secretogranin VI
• Host Species: Rabbit
• Purification Method: Protein A
• Regulatory Status: RUO
• Gene ID (Entrez): 2778
• Content And Storage: Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.
• Form: Liquid

• Applications: Flow Cytometry, Immunocytochemistry, Immunofluorescence, Immunohistochemistry (Paraffin), Western Blot
• Concentration: 0.42 mg/mL
• Formulation: PBS with 0.09% sodium azide
• Gene Accession No.: O95467
• Gene Symbols: GNAS
• Immunogen: KLH conjugated synthetic peptide between 287-315 amino acids from the C-terminal region of human GNAS
• Quantity: 400 μL
• Primary or Secondary: Primary
• Target Species: Human
• Product Type: Antibody
• Isotype: IgG