Thermo Fisher Scientific GNAS Monoclonal Antibody (OTI7H4), TrueMAB

Applications

Western Blot (WB)

• Tested Dilution: 1:2,000

Immunohistochemistry (Paraffin) (IHC (P))

• Tested Dilution: 1:500

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 highly 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, commonly found in imprinted genes.
The close proximity (14 kb) of two oppositely expressed promoter regions is unusual. One alternate 5' exon introduces a frameshift, resulting in an isoform structurally unrelated to others. An antisense transcript may regulate imprinting in this region. Mutations in this gene result in PHP1a, which requires maternal transmission for full penetrance.

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