| Gene Symbol | BRCA1 |
| Entrez Gene ID | 672 |
| Full Name | BRCA1, DNA repair associated |
| Synonyms | BRCAI,BRCC1,BROVCA1,FANCS,IRIS,PNCA4,PPP1R53,PSCP,RNF53 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | {Breast-ovarian cancer, familial, 1}, 604370 (3); {Pancreatic cancer, susceptibility to, 4}, 614320 (3) |
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