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MGP000657

UniProt Annotations

Entry Information
Gene NameCOX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
Protein EntryCOX10_HUMAN
UniProt IDQ12887
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=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.;
DiseaseLeigh 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.
DiseaseMitochondrial 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.
FunctionConverts protoheme IX and farnesyl diphosphate to heme O. {ECO:0000250}.
SimilarityBelongs to the UbiA prenyltransferase family. {ECO:0000305}.
Subcellular LocationMitochondrion membrane; Multi-pass membrane protein.
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