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MT000143

UniProt Annotations

Entry Information

Gene Name	cytochrome c oxidase assembly homolog 15 (yeast)
Protein Entry	COX15_HUMAN
UniProt ID	Q7KZN9
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=COX15.1; IsoId=Q7KZN9-1; Sequence=Displayed; Name=2; Synonyms=COX15.2; IsoId=Q7KZN9-2; Sequence=VSP_011281; Note=Ref.1 (AAD08646) sequence is in conflict in position: 374:F->L. {ECO:0000305};
Disease	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (CEMCOX2) [MIM:615119]: An infantile disorder, with a rapidly progressive fatal course, characterized by cytochrome c oxidase deficiency. Clinical features include microcephaly, encephalopathy, hypertrophic cardiomyopathy, persistent lactic acidosis, respiratory distress, hypotonia and seizures. Postmortem cardiac muscle studies show marked complex IV deficiency. Complex IV activity is only slightly decreased in the skeletal muscle. {ECO:0000269\|PubMed:12474143, ECO:0000269\|PubMed:21412973}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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. {ECO:0000269\|PubMed:15235026, ECO:0000269\|PubMed:15863660}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	May be involved in the biosynthesis of heme A. {ECO:0000269\|PubMed:12474143}.
Pathway	Porphyrin-containing compound metabolism; heme A biosynthesis; heme A from heme O: step 1/1.
Similarity	Belongs to the COX15/CtaA family. {ECO:0000305}.
Subcellular Location	Mitochondrion membrane {ECO:0000269\|PubMed:9878253}; Multi-pass membrane protein {ECO:0000269\|PubMed:9878253}.
Tissue Specificity	Predominantly found in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain. {ECO:0000269\|PubMed:9878253}.