Thermo Fisher Scientific GNAS Monoclonal Antibody (559CT 16.1.3)

Applications

Tested Dilution

Publications

Western Blot (WB)

1:300

-

Product Specifications

Species Reactivity

Human, Mouse

Host/Isotype

Mouse / IgM

Class

Monoclonal

Type

Antibody

Clone

559CT 16.1.3

Immunogen

KLH conjugated synthetic peptide between 287-315 amino acids from human GNAS

Conjugate

Unconjugated Unconjugated Unconjugated

Form

Liquid

Concentration

Conc. Not Determined

Storage buffer

ascites, pH 7.4

Contains

0.09% sodium azide

Storage conditions

Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.

Shipping conditions

Wet ice

RRID

AB_2897527

Target Information

Mutations in 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. It encodes maternally, paternally, and biallelically expressed proteins which are derived from alternatively spliced transcripts with alternate 5exons. 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 dominant inheritance pattern requiring maternal transmission for full penetrance.

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