COQ6 wt Allele

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;

Details

Origin ID

C200244;

UMLS CUI

C5849058;

OMIM relation
- Coenzyme q6, monooxygenase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q24.3 [NCIt concept]
gene_is_element_in_pathway
- Ubiquinone Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients