BRCA1 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]

BRCA1 Details

Gene Symbol : BRCA1

Gene Name : BRCA1, DNA repair associated

Chromosome : CHR 17: 431,254,82-430,442,94

Locus : 17q21.31

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ZNF675 Details

Gene Symbol : ZNF675

Gene Name : Zinc finger protein 675

Chromosome : CHR 19: 236,872,19-236,510,78

Locus : 19p12

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