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AarF domain containing kinase 3

The COQ8A gene encodes a mitochondrial enzyme in the biosynthesis of CoQ10 (ubiquinone). Mutations cause autosomal recessive primary coenzyme Q10 deficiency 4, an encephalomyopathy.

Genetests:

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

Related Diseases:

Coenzyme Q10 deficiency 4
COQ8A

References:

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 external link
8.

Orphanet article

Orphanet ID 140053 external link
9.

NCBI article

NCBI 56997 external link
Update: Aug. 14, 2020
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