DISEASES

Disease-gene associations mined from literature

Literature associating NDUFAF2 and Cockayne syndrome

NDUFAF2 [ENSP00000296597]

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2; Acts as a molecular chaperone for mitochondrial complex I assembly. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.

Synonyms:  NDUFAF2,  NDUFAF2p,  hNDUFAF2,  D6RA56,  Q8N183 ...

Linkouts:  STRING  Pharos  UniProt  OMIM