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Description
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.
Immunogen
Purified recombinant fragment of human BRCA1 (AA: 229-335) expressed in E. coli.
Other Names
aeBRCA1; Breast cancer type 1 susceptibility protein; BRCA1; BRCAI; BRCC1; BROVCA1; IRIS; PSCP; RNF53; familial breast/ovarian cancer gene 1; PNCA4; PPP1R53; Ring Finger Protein 53