IHC:1:200-1:2000
ICC/IF:1:100-1:500

IRIS
PSCP
BRCAI
BRCC1
FANCS
PNCA4
RNF53
BROVCA1
PPP1R53

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, ａnd it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. 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. [provided by RefSeq, May 2020]

IHC:1:200-1:2000
ICC/IF:1:100-1:500