Thermo Fisher Scientific GNAS Monoclonal Antibody (OTI13D7), TrueMAB

Applications

Western Blot (WB)

• Tested Dilution: 1:500–1:2,000

Immunohistochemistry (Paraffin) (IHC (P))

• Tested Dilution: 1:2,000

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 shows a complex imprinted expression pattern and encodes maternally, paternally, and biallelically expressed proteins 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, 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), with atypical autosomal dominant inheritance requiring maternal transmission for full penetrance.

For Research Use Only. Not for use in diagnostic procedures or resale without express authorization.