COQ8A encodes coenzyme Q8A (647 aa). Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Highest expression in Muscle Skeletal (372.7 TPM) and Adrenal Gland (111.7 TPM).

Autosomal recessive ataxia due to ubiquinone deficiency is associated with mutations in the COQ8A gene on chromosome 1.

The COQ8A protein participates in COQ6 hydroxylates DHB, COQ7:COQ9 octamer hydroxylates DMQ10H2, and Ubiquinol biosynthesis pathways.

COQ8A is classified as a druggable target (Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, and Transporter categories) with score 0.0.

Genetic testing for COQ8A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive ataxia due to ubiquinone deficiency has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 2 very common features, 12 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

15 publications have been identified in PubMed for autosomal recessive ataxia due to ubiquinone deficiency. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (20%).

Recent Publications

• Adarsha N (2026). [PMID: 41673450](https://pubmed.ncbi.nlm.nih.gov/41673450/). *J Hum Genet*. [Basic Science / Preclinical]

• Boasinha AS (2025). [PMID: 40389788](https://pubmed.ncbi.nlm.nih.gov/40389788/). *Mol Neurobiol*. [Basic Science / Preclinical]

• Wang M (2025). [PMID: 40645015](https://pubmed.ncbi.nlm.nih.gov/40645015/). *Stem Cell Res*. [Basic Science / Preclinical]

• Subramanian VK (2025). [PMID: 40580443](https://pubmed.ncbi.nlm.nih.gov/40580443/). *Ann Indian Acad Neurol*. [Case Report / Case Series]

• Fogel BL (2025). [PMID: 40464291](https://pubmed.ncbi.nlm.nih.gov/40464291/). *Ann Neurol*. [Review / Meta-Analysis]

• Laaraje A (2025). [PMID: 40979611](https://pubmed.ncbi.nlm.nih.gov/40979611/). *Sultan Qaboos Univ Med J*. [Case Report / Case Series]

• Damásio J (2025). [PMID: 39936868](https://pubmed.ncbi.nlm.nih.gov/39936868/). *Mov Disord Clin Pract*. [Review / Meta-Analysis]

• Cortés-Rojas MC (2025). [PMID: 40260968](https://pubmed.ncbi.nlm.nih.gov/40260968/). *Mov Disord Clin Pract*. [Case Report / Case Series]

• Ahmad R (2024). [PMID: 39576382](https://pubmed.ncbi.nlm.nih.gov/39576382/). *Mol Biol Rep*. [Case Report / Case Series]

• Beichert L (2024). [PMID: 38847438](https://pubmed.ncbi.nlm.nih.gov/38847438/). *Mov Disord*. [Clinical Trial Publication]