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Coenzyme Q10 Deficiency

MitochondrialAutosomal RecessiveAutosomal DominantVariableSystemic/MultisystemOMIM 615567
W
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msys/myoglob.html#Coenzyme Q10 Deficiency 23

Overview

From WUSTL Neuromuscular

Coenzyme Q10 13 General properties Forms: Reduced (Ubiquinol) & Oxidized (Ubiquinone) Locations All human tissues Highest levels: Heart, Kidney & Liver Cellular location: Mitochondria; Many other organelles Synthesis: ≥ 10 genes required Functions Distributes electrons between Dehydrogenases, and Cytochrome segments of respiratory chain Transports electrons From: Complexes I & II; Electron transfer flavoproteins (ETF) To: Complex III in respiratory chain Allows proton extruded from mitochondrial matrix to intermembrane space Can act as Pro-oxidant, or Anti-oxidant: Both lipoproteins & Cell

Associated Genes

COQ2
coenzyme Q2, polyprenyltransferase
4q21.23
COQ7
coenzyme Q7, hydroxylase
16p12.3
Other genes: COQ9

OMIM Entries

OMIM #615567OMIM #115150OMIM #164757OMIM #615573OMIM #231680OMIM #231675OMIM #607426OMIM #609825OMIM #146500OMIM #614651OMIM #607429OMIM #614652OMIM #610564OMIM #614654OMIM #612837OMIM #616733OMIM #601683OMIM #620402OMIM #619028OMIM #616359

External Resources

WUSTL Neuromuscular
Washington University Disease Center
OMIM
Online Mendelian Inheritance in Man
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.