Thermo Fisher Scientific GNAS Monoclonal Antibody (OTI12D9), TrueMAB

Applications

• Western Blot (WB): 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 exhibits a complex imprinted expression pattern, encoding maternally, paternally, and biallelically expressed proteins derived from alternatively spliced transcripts with alternate 5’ exons.
Each upstream exon resides in a differentially methylated region typical of imprinted genes. The proximity (14 kb) of two oppositely expressed promoter regions is unusual. One alternate 5’ exon introduces a frameshift, yielding an isoform structurally unrelated to others. An antisense transcript may regulate imprinting in this region.
Mutations in this gene cause pseudohypoparathyroidism type 1a (PHP1a), which requires maternal transmission for full penetrance.

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

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