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.
|17 Start: 41196312 End: 41277500 Strand: -1|
|疾病：||乳腺癌 癌症 上皮性卵巢癌 Her2受体阴性乳腺癌 恶性间皮瘤 卵巢癌 卵巢浆膜癌 胰腺癌 前列腺癌 三受体阴性乳腺癌|
|靶向药：||Carboplatin Cediranib Cisplatin CX-3543 CX-5461 Gemcitabine 奥拉帕利 PLATINUM Rucaparib Talazoparib Taxane Veliparib Vinorelbine|