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Beschreibung

Cytochrome b (UniProt: P00156, also known as Complex III subunit 3, Complex III subunit III, Cytochrome b-c1 complex subunit 3, Ubiquinol-cytochrome-c reductase complex cytochrome b subunit) is encoded by the MT-CYB (also known as COB, CYTB, MTCYB) gene (Gene ID: 4519) in human. Cytochrome b is a mitochondrial inner membrane protein that is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex). It is a part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c and contributes to the generation of a proton gradient across the mitochondrial membrane, which is used for ATP synthesis. The MT-CYB gene is a good phylogenetic marker. Defects in MT-CYB gene are a rare cause of mitochondrial dysfunction underlying different myopathies, which include mitochondrial encephalomyopathy, hypertrophic cardiomyopathy, and sporadic mitochondrial myopathy. Some cases of Leber hereditary optic neuropathy (LHON) are also linked to defects in MT-CYB gene, which result in acute or subacute loss of central vision, due to optic nerve dysfunction.