MT-CO3 gene

mitochondrially encoded cytochrome c oxidase III

The information on this page was automatically extracted from online scientific databases.

From UniProt:

Subunits I, II and III form the functional core of the enzyme complex.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Leber's optic atrophy
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

From UniProt:

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. [MIM:550500]

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. [MIM:220110]

Leber hereditary optic neuropathy (LHON): 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. [MIM:535000]

Molecular Location: base pairs 9,207 to 9,990 on mitochondrial DNA (Homo sapiens Updated Annotation Release 109.20191205, GRCh38.p13) (NCBI)

mitochondrial DNA
  • MTCO3