Thermo Fisher Scientific GNAS Polyclonal Antibody

Applications and Tested Dilutions

Product Specifications

Product Specific Information

The antibody was affinity-purified from rabbit antiserum by affinity chromatography using an epitope-specific immunogen. The purity is greater than 95% (by SDS-PAGE).

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 certain pituitary tumors.
This gene exhibits a complex imprinted expression pattern, producing maternally, paternally, and biallelically expressed proteins derived from alternatively spliced transcripts with alternate 5′ exons. Each upstream exon lies within a differentially methylated region. The proximity (14 kb) of two oppositely expressed promoter regions is unusual.
One alternate 5′ exon introduces a frameshift relative to other transcripts, resulting in an isoform structurally unrelated to others. An antisense transcript may regulate imprinting in this region.
Mutations in this gene cause pseudohypoparathyroidism type 1a (PHP1a), which follows 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.