MitoProteome Database

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MT001677

UniProt Annotations

Entry Information

Gene Name	cytochrome c oxidase assembly factor 5
Protein Entry	COA5_HUMAN
UniProt ID	Q86WW8
Species	Human

Comments

Comment type	Description
Disease	Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: 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. {ECO:0000269\|PubMed:21457908}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Involved in an early step of the mitochondrial complex IV assembly process. {ECO:0000269\|PubMed:21457908}.
Similarity	Belongs to the PET191 family. {ECO:0000305}.