The gene ndufv1 encodes the 51 kda subunit of mitochondrial complex i (nadh:ubiquinone oxidoreductase). this protein is an integral part of the electron transport chain, facilitating nadh oxidation and...[+]

The gene ndufv1 encodes the 51 kda subunit of mitochondrial complex i (nadh:ubiquinone oxidoreductase). this protein is an integral part of the electron transport chain, facilitating nadh oxidation and ubiquinone reduction to initiate proton pumping across the mitochondrial inner membrane. its subcellular localization is within the mitochondrion. it is expressed in oocytes and throughout early embryonic development. [-]

             Leigh disease
             Alexander disease
             nuclear type mitochondrial complex I deficiency 1

          LEIGH SYNDROME, NUCLEAR; NULS
          MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD