Thermo Fisher Scientific GNAS Monoclonal Antibody (OTI7D7), TrueMAB

Applications

• Western Blot (WB): Tested dilution 1:500–1:2,000

Product Specifications

Target Information

Mutations in the GNAS gene result in pseudohypoparathyroidism type 1a, type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseous heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors.
This gene exhibits complex imprinted expression patterns, encoding maternally, paternally, and biallelically expressed proteins from alternatively spliced transcripts. Each upstream exon is within a differentially methylated region, typical of imprinted genes. The close proximity of two oppositely expressed promoter regions (14 kb apart) is unusual.
Additionally, one alternate 5′ exon introduces a frameshift, producing an isoform structurally unrelated to others. An antisense transcript may regulate imprinting in this region. Mutations in GNAS cause pseudohypoparathyroidism type 1a (PHP1a), an atypical autosomal dominant disorder requiring maternal transmission for full penetrance.

For Research Use Only.
Not for use in diagnostic procedures. Not for resale without express authorization.