Recombinant fragment (around aa 445-620) of human BRCA1 protein (exact sequence is proprietary)
Alternative Synonym:
BRCA1, Breast and ovarian cancer susceptibility protein 1, Breast Cancer 1 Early Onset, Breast cancer type 1 susceptibility protein, BROVCA1, IRIS, PNCA4, PPP1R53, Protein phosphatase 1 regulatory subunit 53, PSCP, RING finger protein 53, RNF53
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 throµgh 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.
