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.
应用类型
FC, IF, IHC
免疫原
Recombinant human BRCA1 protein fragment (aa445-620)