COX10 Proteins

Protein Information

Defects in COX10 are a cause of mitochondrial complex IV deficiency (MT-C4D); also known as cytochrome c oxidase deficiency. 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, excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patients manifest Leigh syndrome.

Synonyms

2410004F01Rik; AU042636; Cox10; COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor; COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase; COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor; cytochrome c oxidase assembly homolog 10; cytochrome c oxidase assembly protein; cytochrome c oxidase assembly protein 10; cytochrome c oxidase subunit X; heme A: farnesyltransferase; heme O synthase; LOC691853; protoheme IX farnesyltransferase, mitochondrial; similar to COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase