MT-CO2 gene

mitochondrially encoded cytochrome c oxidase II

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

From UniProt:

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. Subunit 2 transfers the electrons from cytochrome c via its binuclear copper A center to the bimetallic center of the catalytic subunit 1.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

From UniProt:

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]

Molecular Location: base pairs 7,586 to 8,269 on mitochondrial DNA (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

mitochondrial DNA
  • COII
  • MTCO2