COQ5 Chromosome 12
Coenzyme Q5, methyltransferase
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What This Gene Does
Enables 2-methoxy-6-polyprenyl-1,4-benzoquinol methyltransferase activity. Involved in methylation and ubiquinone biosynthetic process. Located in mitochondrial inner membrane and mitochondrial matrix. Part of ubiquinone biosynthesis complex. Implicated in primary coenzyme Q10 deficiency 9. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"7BS small molecule methyltransferases|Small molecule methyltransferases"
Locus Type
gene with protein product
Location
12q24.31
Ensembl
ENSG00000110871
Associated Conditions (3)
Coenzyme q10 deficiency
primary
9
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS377668174 | Health Risk | Conflicting classifications of pathogenicity | Coenzyme q10 deficiency, primary, 9 |