Thermo Fisher Scientific G protein alphaisoforms XLas Polyclonal Antibody

Applications and Tested Dilution

Product Specifications

Target Information

Mutations in the GNAS gene result in 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 shows complex imprinted expression, encoding maternally, paternally, and biallelically expressed proteins derived 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, producing an isoform structurally unrelated to others. An antisense transcript may regulate imprinting in this region.
Mutations in this gene result in pseudohypoparathyroidism type 1a (PHP1a) with atypical autosomal dominant inheritance requiring maternal transmission for full penetrance.

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