Thermo Fisher Scientific GNAS Polyclonal Antibody

Thermo Fisher Scientific GNAS Polyclonal Antibody

Applications and Tested Dilution

Product Specifications

Product Specific Information

Purity is >95% by SDS-PAGE.

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. It 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. The close proximity (14 kb) of two oppositely expressed promoter regions is unusual. One alternate 5′ exon introduces a frameshift, resulting in one structurally unrelated isoform. An antisense transcript may regulate imprinting in this region.

Mutations in this gene result in pseudohypoparathyroidism type 1a (PHP1a), which has 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.