Thermo Fisher Scientific GNAS Monoclonal Antibody (A8F12)

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Target Information

Mutations in the GNAS gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 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, 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, typical of imprinted genes.
The close proximity (14 kb) of two 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 in this gene lead to pseudohypoparathyroidism type 1a (PHP1a), which shows atypical autosomal dominant inheritance requiring maternal transmission for full penetrance.

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