BRCA1 Antibody

Background:

This gene encodes a nuclear phosphoprotein that plays arole in maintaining genomic stability, and it also acts as a tumorsuppressor. The encoded protein combines with other tumorsuppressors, DNA damage sensors, and signal transducers to form alarge multi-subunit protein complex known as the BRCA1-associatedgenome surveillance complex (BASC). This gene product associateswith RNA polymerase II, and through the C-terminal domain, alsointeracts with histone deacetylase complexes. This protein thusplays a role in transcription, DNA repair of double-strandedbreaks, and recombination. Mutations in this gene are responsiblefor approximately 40% of inherited breast cancers and more than 80%of inherited breast and ovarian cancers. Alternative splicing playsa role in modulating the subcellular localization and physiologicalfunction of this gene. Many alternatively spliced transcriptvariants, some of which are disease-associated mutations, have beendescribed for this gene, but the full-length natures of only someof these variants has been described. A related pseudogene, whichis also located on chromosome 17, has been identified. [provided byRefSeq].