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Article

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.

Human molecular genetics - 1 Oct 2016

Desbats Maria Andrea, Morbidoni Valeria, Silic-Benussi Micol, Doimo Mara, Ciminale Vincenzo, Cassina Matteo, Sacconi Sabrina, Hirano Michio, Basso Giuseppe, Pierrel Fabien, Navas Placido, Salviati Leonardo, Trevisson Eva

Abstract excerpt

COQ2 (p-hydroxybenzoate polyprenyl transferase) encodes the enzyme required for the second step of the final reaction sequence of Coenzyme Q10 (CoQ) biosynthesis. Its mutations represent a frequent cause of primary CoQ deficiency and have been associated with the widest clinical spectrum, ranging from fatal neonatal multisystemic disease to late-onset encephalopathy. However, the reasons of this variability are...

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Identifiers

PMID: 27493029
DOI: 10.1093/hmg/ddw257

Genes

COQ2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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