MT-CO1

MT-CO1 (Mitochondrially Encoded Cytochrome C Oxidase I) is a Protein Coding gene. Diseases associated with MT-CO1 include Acquired Idiopathic Sideroblastic Anemia and Myoglobinuria, Recurrent. Among its related pathways are Gene Expression and Metabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and electron transfer activity.

Mitochondrially Encoded Cytochrome C Oxidase I

Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.

Aerobic respiration Source: GO_Central
Aging Source: Ensembl
Cellular respiration Source: ComplexPortal
Cerebellum development Source: Ensembl
Electron transport coupled proton transport Source: GO_Central
Mitochondrial electron transport, cytochrome c to oxygen Source: GO_Central
Respiratory electron transport chain Source: GO_Central
Response to copper ion Source: Ensembl
Response to electrical stimulus Source: Ensembl
Response to oxidative stress Source: Ensembl

Mitochondrion inner membrane

Leber hereditary optic neuropathy (LHON):
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON 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.
Mitochondrial complex IV deficiency (MT-C4D):
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, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome.
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.
Deafness, sensorineural, mitochondrial (DFNM):
A form of non-syndromic deafness with maternal inheritance. Affected individuals manifest progressive, postlingual, sensorineural hearing loss involving high frequencies.
Colorectal cancer (CRC):
A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

Mitochondrial matrix: 1-11
Helical: 12-40
Mitochondrial intermembrane: 41-50
Helical: 51-86
Mitochondrial matrix: 87-94
Helical: 95-117
Mitochondrial intermembrane: 118-140
Helical: 141-170
Mitochondrial matrix: 171-182
Helical: 183-212
Mitochondrial intermembrane: 213-227
Helical: 228-261
Mitochondrial matrix: 262-269
Helical: 270-286
Mitochondrial intermembrane: 287-298
Helical: 299-327
Mitochondrial matrix: 328-335
Helical: 336-357
Mitochondrial intermembrane: 358-370
Helical: 371-400
Mitochondrial matrix: 401-406
Helical: 407-433
Mitochondrial matrix: 434-446
Helical: 447-478
Mitochondrial intermembrane: 479-513