Thermo Fisher Scientific GNAS Polyclonal Antibody

Applications and Tested Dilutions

Product Specifications

Product Specific Information

Antibody detects endogenous levels of total GNAS.

Target Information

Mutations in the GNAS gene result in several disorders including pseudohypoparathyroidism type 1a and 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseous heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors.
This gene exhibits a complex imprinted expression pattern, producing maternally, paternally, and biallelically expressed proteins from alternatively spliced transcripts with alternate 5′ exons. Each upstream exon lies within a differentially methylated region typical of imprinted genes. The close proximity (14 kb) of two oppositely expressed promoter regions 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 lead to pseudohypoparathyroidism type 1a (PHP1a), which shows 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.