Thermo Fisher Scientific GNAS Polyclonal Antibody

Applications and Tested Dilutions

Product Specifications

Product Specific Information

This antibody detects endogenous levels of total GNAS.

Target Information

Mutations in the GNAS gene result in various 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, encoding maternally, paternally, and biallelically expressed proteins derived from alternatively spliced transcripts with alternate 5′ exons. Each upstream exon resides within a differentially methylated region. The close proximity (14 kb) of oppositely expressed promoter regions is unusual.
One alternate 5′ exon introduces a frameshift, producing an isoform structurally unrelated to others. An antisense transcript may regulate imprinting in this region. Mutations can cause pseudohypoparathyroidism type 1a (PHP1a) with atypical autosomal dominant inheritance requiring maternal transmission for full penetrance.

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