COQ2

Protein-coding gene in humans From Wikipedia, the free encyclopedia

Para-hydroxybenzoate—polyprenyltransferase, mitochondrial is an enzyme that in humans is encoded by the COQ2 gene.[5][6]

AliasesCOQ2, CL640, COQ10D1, MSA1, PHB:PPT, coenzyme Q2, polyprenyltransferase
End83,284,914 bp[1]
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COQ2
Identifiers
AliasesCOQ2, CL640, COQ10D1, MSA1, PHB:PPT, coenzyme Q2, polyprenyltransferase
External IDsOMIM: 609825; MGI: 1919133; HomoloGene: 69192; GeneCards: COQ2; OMA:COQ2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015697
NM_001358921

NM_027978

RefSeq (protein)

NP_056512
NP_001345850

NP_082254

Location (UCSC)Chr 4: 83.26 – 83.28 MbChr 5: 100.8 – 100.82 Mb
PubMed search[3][4]
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CoQ (ubiquinone) serves as a redox carrier in the mitochondrial respiratory chain and is a lipid-soluble antioxidant. COQ2, or parahydroxybenzoate-polyprenyltransferase (EC 2.5.1.39), catalyzes one of the final reactions in the biosynthesis of CoQ, the prenylation of parahydroxybenzoate with an all-trans polyprenyl group (Forsgren et al., 2004).[supplied by OMIM][6]

Role in pathology

Homozygous or compound heterozygous mutations of the COQ2 gene cause primary coenzyme Q10 deficiency 1, a mitochondrial disease.

References

Further reading

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