This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified.

IRIS; PSCP; BRCAI; BRCC1; PNCA4; RNF53; BROVCA1; PPP1R53

p38398

672

Human

IHC

IHC 1:200-1:1000

Mouse IgG1

Mouse

Purified recombinant fragment of human BRCA1 (AA: 229-335) expressed in E. Coli.

207.7kDa

PBS, pH 7.4, 40% glycerol, and 0.01% sodium azide.

Store at 4℃ short term. Store at -20℃ long term. Avoid freeze / thaw cycle.