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GNAS Mouse anti-Human, Clone: OTI7D7, lyophilized, TrueMAB™
SDP

Mouse Monoclonal Antibody

Supplier:  OriGene CF809326

Encompass_Preferred

Catalog No. 50-166-9415


May include imposed supplier surcharges.
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Description

Description

Reconstitute with PBS (pH 7.3) and recommend to perform another round of desalting process using Product No. 7KMWCO

Mutations 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′ 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′ 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.
Specifications

Specifications

GNAS
Monoclonal
Unconjugated
GNAS
AHO, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, PITA3, POH, SCG6, SgVI
Mouse
Affinity Chromatography
RUO
2778
-20° C, Avoid Freeze/Thaw Cycles
Lyophilized
Western Blot
OTI7D7
PBS with 8% trehalose and no preservative; pH 7.3
P84996
GNAS
Full length human recombit protein of human GNAS produced in HEK293T Cell.
100 μg
Primary
Human
Antibody
IgG2a
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