DISEASES

Disease-gene associations mined from literature

Literature associating LIG4 and Nijmegen breakage syndrome

LIG4 [ENSP00000484288]

Polydeoxyribonucleotide synthase [ATP] 4; Efficiently joins single-strand breaks in a double- stranded polydeoxynucleotide in an ATP-dependent reaction. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. 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:  LIG4,  LIG4p,  hLIG4,  A0A024RE06,  P49917 ...

Linkouts:  STRING  Pharos  UniProt