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MGP005093

UniProt Annotations

Entry Information
Gene Namecoenzyme Q6 monooxygenase
Protein EntryCOQ6_HUMAN
UniProt IDQ9Y2Z9
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; Synonyms=a; IsoId=Q9Y2Z9-1; Sequence=Displayed; Name=2; Synonyms=b; IsoId=Q9Y2Z9-2; Sequence=VSP_044060, VSP_044062; Name=3; Synonyms=c; IsoId=Q9Y2Z9-3; Sequence=VSP_044061;
CofactorName=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000305};
DiseaseCoenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650]: An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis. {ECO:0000269|PubMed:21540551}. Note=The disease is caused by mutations affecting the gene represented in this entry.
PathwayCofactor biosynthesis; ubiquinone biosynthesis.
SimilarityBelongs to the UbiH/COQ6 family. {ECO:0000305}.
Subcellular LocationGolgi apparatus. Cell projection {ECO:0000250}. Note=Localizes to podocyte cell processes. {ECO:0000250}.
SubunitInteracts with ADCK4 and COQ7. {ECO:0000269|PubMed:24270420}.
Tissue SpecificityWidely epressed. {ECO:0000269|PubMed:21540551}.
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