primary coenzyme Q10 deficiency 1

Summary
Synonym
  • COQ10D1
  • CoQ deficiency 1
  • CoQ10 deficiency, primary, 1
  • coenzyme Q deficiency 1
  • ubiquinone deficiency 1
Definition
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23.
Super Class
coenzyme Q10 deficiency disease
Disease Ontology
DOID:0070238
Mondo Disease Ontology
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
27235 COQ2 coenzyme Q2, polyprenyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
71883 Coq2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
498332 Coq2 coenzyme Q2, polyprenyltransferase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024