COX1 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. Defects in MT-CO1 are a cause of Leber hereditary optic neuropathy (LHON). LHON is a maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. 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. Defects in MT-CO1 are a cause of mitochondrial complex IV deficiency (MT-C4D); also known as cytochrome c oxidase deficiency. A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patients manifest Leigh syndrome. Defects in MT-CO1 are associated with recurrent myoglobinuria mitochondrial (RM-MT). Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness, and followed by excretion of myoglobin in the urine. Defects in MT-CO1 are a cause of deafness sensorineural mitochondrial (DFNM). DFNM is a form of non-syndromic deafness with maternal inheritance. Affected individuals manifest progressive, postlingual, sensorineural hearing loss involving high frequencies. Defects in MT-CO1 are a cause of colorectal cancer (CRC). Belongs to the heme-copper respiratory oxidase family. Note: This description may include information from UniProtKB.
Protein type: EC; Energy Metabolism - oxidative phosphorylation; Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial; Oxidoreductase
Chromosomal Location of Human Ortholog: -
Cellular Component:  integral component of membrane; mitochondrial inner membrane; mitochondrial respiratory chain complex III; mitochondrial respiratory chain complex IV; respiratory chain complex IV
Molecular Function:  heme binding; metal ion binding; protein binding
Biological Process:  aging; cerebellum development; mitochondrial electron transport, cytochrome c to oxygen; response to copper ion; response to electrical stimulus; response to oxidative stress
Disease: Deafness, Nonsyndromic Sensorineural, Mitochondrial; Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes
Reference #:  P00395 (UniProtKB)
Alt. Names/Synonyms: COI; COX1; COXI; Cytochrome c oxidase polypeptide I; Cytochrome c oxidase subunit 1; cytochrome c oxidase subunit I; mitochondrially encoded cytochrome c oxidase I; MT-CO1; MT-COI; MTCO1
Gene Symbols: MT-CO1
Molecular weight: 57,041 Da
Basal Isoelectric point: 6.19  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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