MT-COI

The official name of this gene is “mitochondrially encoded cytochrome c oxidase I.”

MT-COI is the gene's official symbol. The MT-COI gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

Genetics Home Reference provides information about cytochrome c oxidase deficiency, which is associated with changes in the MT-COI gene.

UniProt provides the following information about the MT-COI gene's known or predicted involvement in human disease.

Note=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)^[1]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

Recurrent myoglobinuria mitochondrial (RM-MT)^[2]: 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. Note=The gene represented in this entry may be involved in disease pathogenesis.

Colorectal cancer (CRC)^[3]: 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. Note=The gene represented in this entry may be involved in disease pathogenesis.

Entrez Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the MT-COI gene.

• Deafness, nonsyndromic sensorineural, mitochondrial^[4]
• Juvenile myopathy, encephalopathy, lactic acidosis AND stroke^[5]

UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.

	Article Number	Main Topic
[1]	220110	MITOCHONDRIAL COMPLEX IV DEFICIENCY
[2]	550500	MYOGLOBINURIA, RECURRENT
[3]	114500	COLORECTAL CANCER
[4]	500008	DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
[5]	540000	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES

The MT-COI gene is located in mitochondrial DNA.

Molecular Location in mitochondrial DNA: base pairs 5,903 to 7,444

You and your healthcare professional may find the following resources about MT-COI helpful.

• Genetic Testing Registry - Repository of genetic test information
  • GTR: Genetic tests for MT-COI

You may also be interested in these resources, which are designed for genetics professionals and researchers.

• OMIM - Genetic disorder catalog
  • COLORECTAL CANCER
  • MITOCHONDRIAL COMPLEX IV DEFICIENCY
  • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
  • MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
  • MYOGLOBINURIA, RECURRENT
• Research Resources - Tools for researchers
  • Atlas of Genetics and Cytogenetics in Oncology and Haematology
  • Entrez Gene
  • GeneCards
  • HUGO Gene Nomenclature Committee
  • UniProt

The Handbook provides basic information about genetics in clear language.

• What is DNA?
• What is a gene?
• What is mitochondrial DNA?
• Can changes in mitochondrial DNA affect health and development?

These links provide additional genetics resources that may be useful.

• Genetics education
• Human Genome Project
• Resources for Genetic Researchers

acidosis ; acute ; adenocarcinoma ; adenoma ; anemia ; cancer ; cardiac ; cardiomyopathy ; colitis ; colon ; colorectal ; deficiency ; developmental delay ; DNA ; encephalopathy ; enzyme ; excretion ; family history ; gene ; heme ; hypertrophic ; hypotonia ; idiopathic ; inheritance ; intestine ; iron ; juvenile ; lactic acidosis ; lesion ; maternal ; maternal inheritance ; mental retardation ; mitochondria ; motor ; myoglobin ; myoglobinuria ; necrosis ; neonatal ; neurological ; neuropathy ; optic nerve ; oxidase ; oxygen ; postlingual ; progression ; rectum ; respiratory ; rhabdomyolysis ; risk factors ; sensorineural ; sensorineural hearing loss ; skeletal muscle ; subunit ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.