Thermo Fisher Scientific GNAS Polyclonal Antibody

Applications

Western Blot (WB)

• Tested Dilution: 0.1–0.5 µg/mL
• View 2 publications

Product Specifications

Product Specific Information

• This antibody is predicted to react with bovine based on sequence homology.
• Tested in Peptide ELISA: antibody detection limit dilution 32,000.

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, encoding 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, producing an isoform structurally unrelated to others. An antisense transcript may regulate imprinting in this region.
Mutations in this gene are associated with pseudohypoparathyroidism type 1a (PHP1a), which shows 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.