GNAS Mouse anti-Human, Clone: OTI7H4, lyophilized, TrueMAB
Mouse Monoclonal Antibody
Manufacturer: OriGene CF809260
Reconstitute with PBS (pH 7.3) and recommend to perform another round of desalting process using Product No. 7KMWCOMutations in GNAS gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. This gene has a highly complex imprinted expression pattern. It encodes maternally, paternally, and biallelically expressed proteins which are derived from alternatively spliced transcripts with alternate 5 ft. exons. Each of the upstream exons is within a differentially methylated region, commonly found in imprinted genes. However, the close proximity (14 kb) of two oppositely expressed promoter regions is unusual. In addition, one of the alternate 5 ft. exons introduces a frameshift relative to the other transcripts, resulting in one isoform which is structurally unrelated to the others. An antisense transcript exists, and may regulate imprinting in this region. Mutations in this gene result in pseudohypoparathyroidism type 1a (PHP1a), which has an atypical autosomal domit inheritance pattern requiring maternal transmission for full penetrance. Other transcript variants including four additional exons have been described; however, their full length sequences have not been determined.
|Full length human recombit protein of human GNAS produced in HEK293T cell.|
|Immunohistochemistry (Paraffin), Western Blot|
|PBS with 8% trehalose and no preservative; pH 7.3|
|AHO, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, PITA3, POH, SCG6, SgVI|
|-20° C, Avoid Freeze/Thaw Cycles|
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