Disease-gene associations mined from literature

Literature associating XRCC4 and X-linked reticulate pigmentary disorder

XRCC4 [ENSP00000421491]

X-ray repair complementing defective repair in Chinese hamster cells 4; Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends.

Synonyms:  XRCC4,  XRCC4p,  hXRCC4,  A0A024RAL0,  A0A024RAQ8 ...

Linkouts:  STRING  Pharos  UniProt