9i7u

Structural highlights

Disease

COX1_HUMAN Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure;Mitochondrial non-syndromic sensorineural deafness;Genetic recurrent myoglobinuria;Isolated cytochrome C oxidase deficiency;Leber hereditary optic neuropathy;MELAS. The disease is caused by mutations affecting the gene represented in this entry. MT-CO1 may play a role in the pathogenesis of acquired idiopathic sideroblastic anemia, a disease characterized by inadequate formation of heme and excessive accumulation of iron in mitochondria. Mitochondrial iron overload may be attributable to mutations of mitochondrial DNA because these can cause respiratory chain dysfunction, thereby impairing reduction of ferric iron to ferrous iron. The reduced form of iron is essential to the last step of mitochondrial heme biosynthesis.^{[1] [2]} The disease is caused by mutations affecting the gene represented in this entry. The gene represented in this entry may be involved in disease pathogenesis. The disease is caused by mutations affecting the gene represented in this entry. The gene represented in this entry may be involved in disease pathogenesis.

Function

COX1_HUMAN Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1-3 form the functional core of the enzyme complex. CO I is the catalytic subunit of the enzyme. Electrons originating in cytochrome c are transferred via the copper A center of subunit 2 and heme A of subunit 1 to the bimetallic center formed by heme A3 and copper B.

References

1. ↑ Gattermann N, Retzlaff S, Wang YL, Hofhaus G, Heinisch J, Aul C, Schneider W. Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. Blood. 1997 Dec 15;90(12):4961-72. PMID:9389715
2. ↑ Broker S, Meunier B, Rich P, Gattermann N, Hofhaus G. MtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase. Eur J Biochem. 1998 Nov 15;258(1):132-8. PMID:9851701