Disease-gene associations mined from literature

Literature associating NDUFS7 and hypomyelinating leukodystrophy 5

NDUFS7 [ENSP00000233627]

NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase); Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. 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:  NDUFS7,  NDUFS7p,  hNDUFS7,  B3KRI2,  F5GXJ1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM