Disease-gene associations mined from literature

Literature associating XRCC3 and xeroderma pigmentosum group G

XRCC3 [ENSP00000451974]

X-ray repair complementing defective repair in Chinese hamster cells 3; Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD21 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.

Synonyms:  XRCC3,  XRCC3p,  hXRCC3,  G3V2L7,  G3V2P3 ...

Linkouts:  STRING  Pharos  UniProt