COQ3

Chr 6

coenzyme Q3, methyltransferase

Also known as: DHHBMT, DHHBMTASE, UG0215E05, bA9819.1

NCBI Gene: 51805 ENSG00000132423 UniProt: Q9NZJ6

The COQ3 protein is an O-methyltransferase that catalyzes two critical steps in ubiquinone (coenzyme Q10) biosynthesis, including the final methylation of demethylubiquinone to ubiquinone. Mutations cause primary coenzyme Q10 deficiency, presenting as a mitochondrial disorder with variable clinical manifestations including encephalomyopathy, cerebellar ataxia, and nephropathy. COQ3-related disorders follow autosomal recessive inheritance.

ResearchSummary from RefSeq, UniProt

Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid consists of a hydrophobic isoprenoid tail and a quinone head group. The tail varies in length depending on the organism, but its purpose is to anchor coenzyme Q to the membrane. The quinone head group is responsible for the activity of coenzyme Q in the respiratory chain. The S. cerevisiae COQ3 gene encodes an O-methyltransferase required for 2 steps in the biosynthetic pathway of coenzyme Q. This enzyme methylates an early coenzyme Q intermediate, 3,4-dihydroxy-5-polyprenylbenzoic acid, as well as the final intermediate in the pathway, converting demethyl-ubiquinone to coenzyme Q. The COQ3 gene product is also capable of methylating the distinct prokaryotic early intermediate 2-hydroxy-6-polyprenyl phenol.[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.34

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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