DISEASES

Disease-gene associations mined from literature

Literature associating NDUFV2 and mitochondrial complex I deficiency

NDUFV2 [ENSP00000327268]

NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial; 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).

Synonyms:  NDUFV2,  NDUFV2p,  hNDUFV2,  E7EPT4,  J3KRB4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM