乳腺癌易感基因1抗体

乳腺癌易感基因1抗体 Background: 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. [provided by RefSeq, May 2009]. Also known as: BRCA 1; BRCA1; BRCA1/BRCA2 containing complex subunit 1; BRCA1/BRCA2-containing complex, subunit 1; BRCA1_HUMAN; BRCAI; BRAC 1; BRCA 1; BRCC 1; BRCC1; Breast Cancer 1; Breast Cancer 1 Early Onset; Breast cancer type 1 susceptibility protein; Breast and ovarian cancer susceptibility protein 1; Breast Ovarian Cancer Susceptibility; IRIS; Papillary Serous Carcinoma Of The Peritoneum; PSCP; RING finger protein 53; BROVCA1; IRIS; PNCA4; PPP1R53; Protein phosphatase 1 regulatory subunit 53; RNF53; BAP1.乳腺癌易感基因1抗体