• Gene id: 27235

Gene Summary

• Gene Symbol: COQ2   Gene   UCSC   Ensembl
• Aliases: CL640, COQ10D1, MSA1, PHB:PPT
• Gene name: coenzyme Q2, polyprenyltransferase
• Alternate names: 4-hydroxybenzoate polyprenyltransferase, mitochondrial, 4-HB polyprenyltransferase, 4-hydroxybenzoate decaprenyltransferase, PHB:polyprenyltransferase, coenzyme Q2 4-hydroxybenzoate polyprenyltransferase, coenzyme Q2 homolog, prenyltransferase, para-hydro,
• Gene location: 4q21.22-q21.23 (83285133: 83138563)     Exons: 17     NC_000004.12
• Gene summary(Entrez): This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyze
• OMIM: 609825

Protein Summary

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways

Diseases

Associated diseases	References
Multiple system atrophy	OMIM: 609825
Male factor infertility	MIK: 20464038
Male factor infertility	MIK: 20464038
Coenzyme Q10 deficiency	OMIM: 609825
Chronic renal failure	GAD: 20507940
Male infertility	MIK: 20464038
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20464038	Male infertility			99 (39 controls, 60 infertile patients (32 oligozoospermia, 22 azoospermia, 6 asthenozoospermia))	Male infertility	CoQ10
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)