DISEASES

Disease-gene associations mined from literature

Literature associating C9orf142 and optic atrophy 11

C9orf142 [ENSP00000360682]

Chromosome 9 open reading frame 142; Involved in non-homologous end joining (NHEJ), a major pathway to repair double-strand breaks in DNA. May act as a scaffold required to stabilize the Ku heterodimer, composed of XRCC5/Ku80 and XRCC6/Ku70, at double-strand break sites and promote the assembly and/or stability of the NHEJ machinery.

Synonyms:  C9orf142,  C9ORF142,  PAXX,  Q9BUH6,  Q9BUH6p ...

Linkouts:  STRING  Pharos  UniProt