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:
Related Diseases:
References:
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Quinzii CM et al. (2010) Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.
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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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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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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
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Orphanet article
Orphanet ID 120770
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12. |
NCBI article
NCBI 27235
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13. |
Wikipedia article
Wikipedia EN (COQ2)
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Update: Aug. 14, 2020