Breast Cancer Susceptibility Protein 2 (BRCA2) ELISA Kit for Human

Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, Dec 2008]

BRCA2: involved in double-strand break repair and/or homologous recombination. May participate in S phase checkpoint activation. Interacts with RAD51 and DSS1. Interacts with ubiquitinated FANCD2. Interacts with PALB2, enables the recombinational repair and checkpoint functions. Interacts with WDR16. Defects in BRCA2 are a cause of genetic susceptibility to breast cancer and may underlie susceptibility to uveal melanoma.

Protein type: Tumor suppressor; DNA repair, damage; Nuclear receptor co-regulator

Chromosomal Location of Human Ortholog: 13q12.3

Cellular Component: nucleoplasm; centrosome; protein complex; cytoplasm; BRCA2-MAGE-D1 complex; nucleus; secretory granule

Molecular Function: H4 histone acetyltransferase activity; gamma-tubulin binding; protein binding; histone acetyltransferase activity; protease binding; H3 histone acetyltransferase activity; single-stranded DNA binding

Biological Process: positive regulation of transcription, DNA-dependent; cell aging; cytokinesis; positive regulation of mitotic cell cycle; DNA repair; inner cell mass cell proliferation; regulation of cytokinesis; oocyte maturation; response to UV-C; double-strand break repair via homologous recombination; negative regulation of mammary gland epithelial cell proliferation; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; male meiosis I; nucleotide-excision repair; double-strand break repair; response to gamma radiation; replication fork protection; hemopoiesis; spermatogenesis; brain development; centrosome duplication; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; female gonad development; response to X-ray

Disease: Pancreatic Cancer, Susceptibility To, 2; Breast-ovarian Cancer, Familial, Susceptibility To, 2; Prostate Cancer; Breast Cancer; Medulloblastoma; Glioma Susceptibility 3; Tracheoesophageal Fistula With Or Without Esophageal Atresia; Fanconi Anemia, Complementation Group D1; Wilms Tumor 1