DISEASES

Disease-gene associations mined from literature

Literature associating NDUFAF5 and ornithine carbamoyltransferase deficiency

NDUFAF5 [ENSP00000367346]

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5; Arginine hydroxylase involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages. Acts by mediating hydroxylation of 'Arg-111' of NDUFS7. May also have methyltransferase activity (Probable).

Synonyms:  NDUFAF5,  NDUFAF5p,  hNDUFAF5,  B3KR61,  NDUFAF5-001 ...

Linkouts:  STRING  Pharos  UniProt