DNA Repair Protein XRCC3 (XRCC3) Human Recombinant Protein

This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

XRCC3: Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and RAD51C. Defects in XRCC3 are the cause of susceptibility to breast cancer (BC). BC is a common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. Defects in XRCC3 are the cause of susceptibility to cutaneous malignant melanoma type 6 (CMM6). CMM6 is a malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but also may involve other sites. Belongs to the RecA family. RAD51 subfamily.

Protein type: DNA repair, damage

Chromosomal Location of Human Ortholog: 14q32.33

Cellular Component: cytoplasm; mitochondrion; nuclear chromosome, telomeric region; nucleoplasm; nucleus; perinuclear region of cytoplasm; replication fork

Molecular Function: crossover junction endodeoxyribonuclease activity; DNA-dependent ATPase activity; double-stranded DNA binding; four-way junction DNA binding; protein binding; recombinase activity; single-stranded DNA binding

Biological Process: DNA recombination; DNA repair; DNA synthesis during DNA repair; double-strand break repair via homologous recombination; meiotic DNA recombinase assembly; meiotic recombination; response to DNA damage stimulus; response to ionizing radiation; strand displacement; strand invasion; telomere maintenance via recombination

Disease: Breast Cancer; Melanoma, Cutaneous Malignant, Susceptibility To, 6