XRCC3

Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD51 paralog protein complex CX3 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, CX3 acts downstream of RAD51 recruitment; the complex binds predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junctions of replication forks. Involved in HJ resolution and thus in processing HR intermediates late in the DNA repair process; the function may be linked to the CX3 complex and seems to involve GEN1 during mitotic cell cycle progression. Part of a PALB2-scaffolded HR complex containing BRCA2 and RAD51C and which is thought to play a role in DNA repair by HR. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and RAD51C.

Breast cancer

BC

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.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Melanoma, cutaneous malignant 6

CMM6

A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but may also involve other sites.

None

Disease susceptibility may be associated with variants affecting the gene represented in this entry. Variant p.Thr341Met has been reported to be associated with an increased risk for CMM6 (PubMed:11059748). Further studies have shown that this variant is functional in homology-directed DNA repair, and the association of XRCC3 with CMM6 has not been confirmed (PubMed:12037675, PubMed:12376526, PubMed:26137085, PubMed:26922354).

Belongs to the RecA family. RAD51 subfamily.

• Nucleus
• Cytoplasm
• Cytoplasm
• Perinuclear region
• Mitochondrion
• Accumulates in discrete nuclear foci prior to DNA damage, and these foci persist throughout the time course of DNA repair.

DNA repair protein XRCC3, X-ray repair cross-complementing protein 3, XRCC3

• entrezGene:7517
• omim:600675
• swissprot:O43542

Proteins

Oncology

37850Da