Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Coenzyme Q9 homolog (S. cerevisiae)

The COQ9 gene encodes a mitochondrial enzyme in the biosynthesis of CoQ10 (ubiquinone). Mutations cause autosomal recessive primary coenzyme Q10 deficiency 5, 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 5
COQ9

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.

Loftus BJ et al. (1999) Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.

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3.

Johnson A et al. (2005) COQ9, a new gene required for the biosynthesis of coenzyme Q in Saccharomyces cerevisiae.

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4.

Duncan AJ et al. (2009) A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.

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5.

NCBI article

NCBI 57017 [^]
6.

OMIM.ORG article

Omim 612837 [^]
7.

Orphanet article

Orphanet ID 201526 [^]
8.

Wikipedia article

Wikipedia EN (COQ9) [^]
Update: April 29, 2019