Thermo Fisher Scientific GNAS Polyclonal Antibody, MaxPab

Applications

Western Blot (WB)

• Tested Dilution: 1–5 µg/mL

in situ PLA (PLA)

• Tested Dilution: 1:1200

Product Specifications

Product Specific Information

Protein sequence:
MGCLGNSKTE DQRNEEKAQR EANKKIEKQL QKDKQVYRAT HRLLLLGAGE SGKSTIVKQM RILHVNGFNG EGGEEDPQAA RSNSDGEKAT KVQDIKNNLK EAIETIVAAM SNLVPPVELA NPENQFRVDY ILSVMNVPDF DFPPEFYEHA KALWEDEGVR ACYERSNEYQ LIDCAQYFLD KIDVIKQADY VPSDQDLLRC RVLTSGIFET KFQVDKVNFH MFDVGGQRDE RRKWIQCFND VTAIIFVVAS SSYNMVIRED NQTNRLQEAL NLFKSIWNNR WLRTISVILF LNKQDLLAEK VLAGKSKIED YFPEFARYTT PEDATPEPGE DPRVTRAKYF IRDEFLRIST ASGDGRHYCY PHFTCAVDTE NIRRVFNDCR DIIQRMHLRQ YELL

Target Information

Mutations in the GNAS gene result in various disorders, including:

• Pseudohypoparathyroidism type 1a and 1b
• Albright hereditary osteodystrophy
• Pseudopseudohypoparathyroidism
• McCune-Albright syndrome
• Progressive osseous heteroplasia
• Polyostotic fibrous dysplasia of bone
• Some pituitary tumors

This gene exhibits a complex imprinted expression pattern, producing maternally, paternally, and biallelically expressed proteins from alternatively spliced transcripts. Upstream exons are located within differentially methylated regions typical of imprinted genes. The proximity of oppositely expressed promoter regions (14 kb apart) is unusual. One alternate 5′ exon introduces a frameshift, generating an isoform structurally unrelated to others. An antisense transcript may regulate imprinting in this region. Mutations can lead to PHP1a, showing 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.