AarF-Domain-Kinase 3
Das COQ8A-Gen kodiert ein mitochondriales Enzym des Ubichinon-10 (Coenzym-10) Stoffwechsels. Mutationen sind sind für den autosomal rezessiven primärer Coenzym Q10-Mangel 4 verantwortlich, eine zerebromuskuläre Erkrankung.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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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Update: 14. August 2020