Disease-gene associations mined from literature

Literature associating NDUFS1 and hypomyelinating leukodystrophy 5

NDUFS1 [ENSP00000392709]

NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (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 (By similarity). This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized; NADH:ubiquinone oxidoreductase core subunits

Synonyms:  NDUFS1,  NDUFS1p,  hNDUFS1,  B4DJ81,  C9JPQ5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM