The gene mt-nd1 encodes a core subunit of mitochondrial complex i (nadph:ubiquinone oxidoreductase), which functions in the electron transport chain to facilitate nadh oxidation and proton pumping acro...[+]

The gene mt-nd1 encodes a core subunit of mitochondrial complex i (nadph:ubiquinone oxidoreductase), which functions in the electron transport chain to facilitate nadh oxidation and proton pumping across the inner mitochondrial membrane, contributing to the generation of the proton gradient used for ATP synthesis. This protein is localized within the mitochondria. [-]

             MELAS syndrome
             Leber hereditary optic neuropathy

          LEBER OPTIC ATROPHY

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