Preferred Label : COQ6 wt Allele;
NCIt synonyms : Coenzyme Q6 Monooxygenase Gene; Coenzyme Q6 Homolog, Monooxygenase Gene; Coenzyme Q6 Homolog, Monooxygenase (Yeast) Gene; COQ10D6; Coenzyme Q6, Monooxygenase wt Allele; Coenzyme Q6 Homolog, Monooxygenase (S. cerevisiae) Gene; COQ6, S. cerevisiae, Homolog of Gene; CGI10; Coenzyme Q6 Homolog (Yeast) Gene; CGI-10;
NCIt definition : Human COQ6 wild-type allele is located in the vicinity of 14q24.3 and is approximately
14 kb in length. This allele, which encodes ubiquinone biosynthesis monooxygenase
COQ6, mitochondrial protein, is involved in the mitochondrial biosynthesis of ubiquinone
(coenzyme Q10). Mutation of the gene is associated with autosomal recessive primary
coenzyme Q10 deficiency 6, which is characterized by infant onset of severe progressive
nephrotic syndrome that leads to sensorineural deafness.;
NCI Metathesaurus CUI : CL1907069;
GenBank Accession Number : AF132944;
Origin ID : C200244;
OMIM relation
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
