Ubiquinol Cytochrome C Reductase Core Protein I (UQCRC1)

The ubiquinol-cytochrome c reductase complex is an oligomeric enzyme that catalyzes transfer of electrons from coenzyme QH2 to ferricytochrome c with the coupled translocation of protons across the mitochondrial inner membrane. Ubiquinone-binding protein (UQPC), which maps to chromosome 8, is another component of the mitochondrial cytochrome bc1 complex, as is also cytochrome c1 (CYC1). Deficiencies of the cytochrome bc1 complex have been found in some cases of mitochondrial myopathy, encephalomyopathy, and cardiomyopathy. In some of these patients, lack of maternal inheritance patterns suggests involvement of the nuclear genome. Mutations in the core I gene and other genes, as well as linkage to the chromosomal regions represented by the candidate genes, can be sought in these disorders.