RAD51L2 Antibody – Rabbit

This gene is a member of the RAD51 family of related genes, which encode strand-transfer proteins thought to be involved in recombinational repair of damaged DNA and in meiotic recombination. This gene product interacts with two other DNA repair proteins, encoded by RAD51B and XRCC3, but not with itself. The protein copurifies with XRCC3 protein in a complex, reflecting their endogenous association and suggesting a cooperative role during recombinational repair. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing has been observed for this gene and two variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

RAD51C: Essential for the homologous recombination (HR) pathway of DNA repair. Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. The RAD51B-RAD51C dimer exhibits single-stranded DNA-dependent ATPase activity. The BCDX2 complex binds single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. Participates in branch migration and Holliday junction resolution and thus is important for processing HR intermediates late in the DNA repair process. Also has an early function in DNA repair in facilitating phosphorylation of the checkpoint kinase CHEK2 and thereby transduction of the damage signal, leading to cell cycle arrest and HR activation. Protects RAD51 from ubiquitin-mediated degradation that is enhanced following DNA damage. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and XRCC3. Contributes to DNA cross-link resistance, sister chromatid cohesion and genomic stability. Involved in maintaining centrosome number in mitosis. Defects in RAD51C are the cause of Fanconi anemia complementation group O (FANCO). It is a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Defects in RAD51C are the cause of familial breast- ovarian cancer type 3 (BROVCA3). It is a condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. Belongs to the RecA family. RAD51 subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA repair, damage

Chromosomal Location of Human Ortholog: 17q22

Cellular Component: nucleoplasm; mitochondrion; perinuclear region of cytoplasm; cytoplasm; replication fork; nucleus

Molecular Function: DNA-dependent ATPase activity; protein binding; DNA binding; four-way junction DNA binding; crossover junction endodeoxyribonuclease activity; ATP binding

Biological Process: male meiosis I; meiotic recombination; sister chromatid cohesion; spermatogenesis; female meiosis sister chromatid cohesion; blood coagulation; DNA repair; DNA catabolic process, endonucleolytic; double-strand break repair via homologous recombination; DNA recombination

Disease: Tracheoesophageal Fistula With Or Without Esophageal Atresia; Breast-ovarian Cancer, Familial, Susceptibility To, 3; Fanconi Anemia, Complementation Group O