The mt-nd6 gene encodes a subunit of nadh dehydrogenase (ubiquinone), also known as complex i, which catalyzes the transfer of electrons from nadh to ubiquinone within the mitochondrial electron transp...[+]

The mt-nd6 gene encodes a subunit of nadh dehydrogenase (ubiquinone), also known as complex i, which catalyzes the transfer of electrons from nadh to ubiquinone within the mitochondrial electron transport chain during oxidative phosphorylation. This protein is localized to the mitochondrial inner membrane and functions in energy production through the generation of a proton gradient across the membrane for atp synthesis. Expression has been documented in various tissues including brain, eye, heart, kidney, liver, muscle, ovary, pancreas, skin, spinal cord, spleen, and testis. [-]

             Leber hereditary optic neuropathy

          LEBER OPTIC ATROPHY

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