The gene ndufb5 encodes a subunit of mitochondrial complex i (nadh:ubiquinone oxidoreductase), which functions in the electron transport chain to facilitate nadh oxidation, ubiquinone reduction, and pr...[+]

The gene ndufb5 encodes a subunit of mitochondrial complex i (nadh:ubiquinone oxidoreductase), which functions in the electron transport chain to facilitate nadh oxidation, ubiquinone reduction, and proton pumping for atp synthesis. The protein is localized to the mitochondrial inner membrane. Expression patterns are detected in the brain, eye, spinal cord, heart, liver, and pronephros during development. [-]

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