Thermo Fisher Scientific G protein alpha S Polyclonal Antibody

Applications and Tested Dilutions

Product Specifications

Target Information

Mutations in the GNAS gene are associated with several disorders, including pseudohypoparathyroidism type 1a and 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseous heteroplasia, and polyostotic fibrous dysplasia of bone. The gene exhibits a complex imprinted expression pattern, encoding maternally, paternally, and biallelically expressed proteins derived from alternatively spliced transcripts. Each upstream exon is located within a differentially methylated region, typical of imprinted genes. The close proximity of two oppositely expressed promoter regions (14 kb apart) is unusual. One alternate 5′ exon introduces a frameshift relative to other transcripts, producing an isoform structurally unrelated to others. An antisense transcript may regulate imprinting in this region. Mutations in this gene can lead to pseudohypoparathyroidism type 1a (PHP1a), which exhibits an atypical autosomal dominant inheritance pattern requiring maternal transmission for full penetrance.

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