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MT000141

UniProt Annotations

Entry Information

Gene Name	COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
Protein Entry	COX10_HUMAN
UniProt ID	Q12887
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q12887-1; Sequence=Displayed; Name=2; IsoId=Q12887-2; Sequence=VSP_056867, VSP_056868; Note=No experimental confirmation available;
Disease	Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. Note=The disease is caused by mutations affecting the gene represented in this entry.
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:10767350, ECO:0000269\|PubMed:12928484}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Converts protoheme IX and farnesyl diphosphate to heme O. {ECO:0000250}.
Similarity	Belongs to the UbiA prenyltransferase family. {ECO:0000305}.
Subcellular Location	Mitochondrion membrane; Multi-pass membrane protein.