COX15

COX15 (COX15, Cytochrome C Oxidase Assembly Homolog) is a Protein Coding gene. Diseases associated with COX15 include Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 2 and Leigh Syndrome. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity and oxidoreductase activity, acting on the CH-CH group of donors.

Full Name

COX15, Cytochrome C Oxidase Assembly Homolog

Function

May be involved in the biosynthesis of heme A.

Biological Process

Cellular respiration Source: HGNC-UCL
Heme A biosynthetic process Source: HGNC-UCL
Heme biosynthetic process Source: Reactome
Mitochondrial electron transport, cytochrome c to oxygen Source: HGNC-UCL
Proton transmembrane transport Source: BHF-UCL
Respiratory chain complex IV assembly Source: HGNC-UCL
Respiratory gaseous exchange by respiratory system Source: UniProtKB

Cellular Location

Mitochondrion membrane

Involvement in disease

Mitochondrial complex IV deficiency, nuclear type 6 (MC4DN6):
An autosomal recessive multisystem disorder with variable manifestations. Some patients present in the neonatal period with encephalomyopathic features, whereas others present later in the first year of life with developmental regression. Clinical features include microcephaly, encephalopathy, hypertrophic cardiomyopathy, persistent lactic acidosis, respiratory distress, hypotonia and seizures. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels.