Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Coenzyme Q2 4-hydroxybenzoate polyprenyltransferase

The COQ2 gene encodes a mitochondrial enzyme in the biosynthesis of CoQ10 (ubiquinone). Mutations cause autosomal recessive primary coenzyme Q10 deficiency 1, an encephalomyopathy.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Coenzyme Q10 deficiency 1
COQ2

References:

1.

Quinzii CM et al. (2010) Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.

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2.

Mollet J et al. (2007) Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.

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3.

Forsgren M et al. (2004) Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ.

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4.

Salviati L et al. (2005) Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

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5.

Quinzii C et al. (2006) A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.

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6.

López-Martín JM et al. (2007) Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.

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7.

Hara K et al. (2007) Multiplex families with multiple system atrophy.

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8.

Diomedi-Camassei F et al. (2007) COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.

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9.

None (2013) Mutations in COQ2 in familial and sporadic multiple-system atrophy.

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10.

OMIM.ORG article

Omim 609825 [^]
11.

Orphanet article

Orphanet ID 120770 [^]
12.

NCBI article

NCBI 27235 [^]
13.

Wikipedia article

Wikipedia EN (COQ2) [^]
Update: April 29, 2019