Thermo Fisher Scientific GNAS Monoclonal Antibody (OTI7A6)

Applications and Tested Dilution

Product Specifications

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 has a highly complex imprinted expression pattern and encodes maternally, paternally, and biallelically expressed proteins derived from alternatively spliced transcripts with alternate 5′ exons. Each upstream exon is within a differentially methylated region, commonly found in imprinted genes.
The proximity (14 kb) of two oppositely expressed promoter regions is unusual. One of the alternate 5′ exons introduces a frameshift, resulting in one isoform structurally unrelated to others. An antisense transcript may regulate imprinting in this region.
Mutations in this gene cause pseudohypoparathyroidism type 1a (PHP1a), which has an atypical autosomal dominant inheritance pattern requiring maternal transmission for full penetrance.

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