Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The COQ8A gene encodes a mitochondrial enzyme in the biosynthesis of CoQ10 (ubiquinone). Mutations cause autosomal recessive primary coenzyme Q10 deficiency 4, an encephalomyopathy.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Iiizumi M et al. (2002) Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex. 
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| 2. |
Lamperti C et al. (2003) Cerebellar ataxia and coenzyme Q10 deficiency.
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| 3. |
Auré K et al. (2004) Progression despite replacement of a myopathic form of coenzyme Q10 defect.
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| 4. |
Mollet J et al. (2008) CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
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| 5. |
Lagier-Tourenne C et al. (2008) ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
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| 6. |
Quinzii CM et al. (2010) Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.
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| 7. |
OMIM.ORG article Omim 606980
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| 8. |
Orphanet article Orphanet ID 140053
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| 9. |
NCBI article NCBI 56997
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