Preferred Label : COQ2 wt Allele;
NCIt synonyms : 4-Hydroxybenzoate Polyprenyltransferase Gene; Coenzyme Q2 Homolog, Prenyltransferase Gene; COQ10D1; Parahydroxybenzoate-Polyprenyltransferase, Mitochondrial Gene; Coenzyme Q2 Homolog, Prenyltransferase (Yeast) Gene; Coenzyme Q2, Polyprenyltransferase wt Allele; MSA1; Coenzyme Q2 4-Hydroxybenzoate Polyprenyltransferase Gene; COQ2, S. cerevisiae, Homolog of Gene; FLJ26072; PHB:PPT; Para-Hydroxybenzoate-Polyprenyltransferase, Mitochondrial Gene; CL640;
NCIt definition : Human COQ2 wild-type allele is located in the vicinity of 4q21.23 and is approximately
24 kb in length. This allele, which encodes 4-hydroxybenzoate polyprenyltransferase,
mitochondrial protein, plays a role in the final step of coenzyme Q10 synthesis. Mutation
of the gene is associated with COQ2 nephropathy, primary coenzyme Q10 deficiency 1
and susceptibility to multiple system atrophy 1.;
NCI Metathesaurus CUI : CL1907073;
GenBank Accession Number : NM_015697;
Origin ID : C200241;
UMLS CUI : C5849000;
OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_is_element_in_pathway
- gene_plays_role_in_process
