COQ6 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - CGI-10 - CGI10 - COQ10D6 - COQ6, S. cerevisiae, Homolog of Gene - Coenzyme Q6 Homolog (Yeast) Gene - Coenzyme Q6 Homolog, Monooxygenase (S. cerevisiae) Gene - Coenzyme Q6 Homolog, Monooxygenase (Yeast) Gene - Coenzyme Q6 Homolog, Monooxygenase Gene - Coenzyme Q6 Monooxygenase Gene - Coenzyme Q6, Monooxygenase wt Allele