The mt-cyb gene encodes cytochrome b, a core subunit of mitochondrial complex iii. this protein is an electron transport chain protein localized to the inner mitochondrial membrane. it functions in the...[+]

The mt-cyb gene encodes cytochrome b, a core subunit of mitochondrial complex iii. this protein is an electron transport chain protein localized to the inner mitochondrial membrane. it functions in the transfer of electrons from ubiquinol to cytochrome c and contributes to the generation of the proton gradient used for ATP synthesis. expression is documented in various tissues including muscle, heart, brain, liver, and kidney. [-]

             Leber hereditary optic neuropathy
             mitochondrial complex III deficiency

          LEBER OPTIC ATROPHY

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