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MT001206

UniProt Annotations

Entry Information

Gene Name	coenzyme Q9
Protein Entry	COQ9_HUMAN
UniProt ID	O75208
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75208-1; Sequence=Displayed; Name=2; IsoId=O75208-2; Sequence=VSP_017683, VSP_017684; Note=No experimental confirmation available.;
Disease	Coenzyme Q10 deficiency, primary, 5 (COQ10D5) [MIM:614654]: A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. {ECO:0000269\|PubMed:19375058}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Involved in the biosynthesis of coenzyme Q. {ECO:0000250}.
Pathway	Cofactor biosynthesis; ubiquinone biosynthesis.
Sequence Caution	Sequence=AAF29004.1; Type=Frameshift; Positions=26, 133, 138, 141; Evidence={ECO:0000305};
Similarity	Belongs to the COQ9 family. {ECO:0000305}.
Subcellular Location	Mitochondrion {ECO:0000250}.