BRCA1 (breast cancer 1. early onset)

GWB-2EAF06

1:62500

Suggested starting concentrations are provided. Optimal dilutions should be determined by end-user. Differences in calculated versus apparent molecular weight may be due to post-translational modifications or protein hydrophobicity. BRCA1. which functions as a tumor suppressor in human breast cancer cells. is a nuclear phosphoprotein which associates with RNA polymerase II holoenzyme. Mutations in BRCA1 are predicted to be responsible for approximately 45% of inherited breast cancerSummary: This protein is a nuclear phosphoprotein that plays a role in maintaining genomic stability and 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 BASC for BRCA1-associated genome surveillance complex. This protein product associates with RNA polymerase II and through the C-terminal domain also interacts with histone deacetylase complex. 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 have been described for this gene but only some have had their full-length natures identified. Summary: This protein is a nuclear phosphoprotein that plays a role in maintaining genomic stability and 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 BASC for BRCA1-associated genome surveillance complex. This protein product associates with RNA polymerase II and through the C-terminal domain also interacts with histone deacetylase complex. 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 have been described for this gene but only some have had their full-length natures identified. [provided by RefSeq]. Mark. W. Y. . et al. . (2005) J. Mol. Biol. 345 (2). 275-287.