BRCAI antibody, BRCC1 antibody, BROVCA1 antibody, IRIS antibody, PNCA4 antibody, PPP1R53 antibody, PSCP antibody, RNF53 antibody, iris antibody, pscp antibody, brcai antibody, brcc1 antibody, rnf53 antibody, brca1 antibody, BRCA1 antibody, LOC100224649 antibody, BRCA1, DNA repair associated antibody, breast cancer 1 antibody, breast cancer 1, early onset antibody, breast cancer 1 L homeolog antibody, BRCA1 antibody, brca1 antibody, LOC755086 antibody, Brca1 antibody, brca1.L antibody
背景
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.,BRCA1,BRCAI,BRCC1,BROVCA1,FANCS,IRIS,PNCA4,PPP1R53,PSCP,RNF53,Epigenetics & Nuclear Signaling,DNA Damage & Repair,Cancer,Tumor suppressors,Cell Biology & Developmental Biology,Cell Cycle,Centrosome,G2/M DNA Damage Checkpoint,Ubiquitin,Ubiquitin-Proteasome Signaling Pathway,BRCA1