COQ2 wt Allele
**Semantic type:** Gene or Genome
**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.
**Synonyms:** - 4-Hydroxybenzoate Polyprenyltransferase Gene - CL640 - COQ10D1 - COQ2, S. cerevisiae, Homolog of Gene - Coenzyme Q2 4-Hydroxybenzoate Polyprenyltransferase Gene - Coenzyme Q2 Homolog, Prenyltransferase (Yeast) Gene - Coenzyme Q2 Homolog, Prenyltransferase Gene - Coenzyme Q2, Polyprenyltransferase wt Allele - FLJ26072 - MSA1 - PHB:PPT - Para-Hydroxybenzoate-Polyprenyltransferase, Mitochondrial Gene - Parahydroxybenzoate-Polyprenyltransferase, Mitochondrial Gene
/api/v1/systems/nci_thesaurus/nodes/C200241Hierarchy Explorer
Cross-system equivalences0
No cross-system equivalences mapped for this node.