Thermo Fisher Scientific GNAS Polyclonal Antibody

Applications

• Western Blot (WB): Tested dilution 1:8,000

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 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 typical of imprinted genes. The close proximity (14 kb) of two oppositely expressed promoter regions is unusual.
One alternate 5′ exon introduces a frameshift relative to other transcripts, resulting in a structurally unrelated isoform. An antisense transcript may regulate imprinting in this region.
Mutations in this gene cause pseudohypoparathyroidism type 1a (PHP1a), which exhibits 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.

제품 이미지

(이미지 없음)