APTX encodes aprataxin (356 aa). DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair. Highest expression in Testis (28.7 TPM) and Cells Cultured fibroblasts (28.5 TPM).

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia is associated with mutations in the APTX gene on chromosome 9.

APTX is classified as a druggable target (Enzyme category) with score 0.0.

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

Biomarker and diagnostic research for ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 3 very common features, 8 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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

202 publications have been identified in PubMed for ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia. Research spans Case Report / Case Series (35%), Basic Science / Preclinical (20%), and Review / Meta-Analysis (19%).

Recent Publications

• Young RE (2026). [PMID: 40931319](https://pubmed.ncbi.nlm.nih.gov/40931319/). *Clinical genetics*. [Review / Meta-Analysis]

• Zhou WT (2026). [PMID: 42103667](https://pubmed.ncbi.nlm.nih.gov/42103667/). *Zhonghua Yan Ke Za Zhi*. [Clinical Trial Publication]

• Popov T (2026). [PMID: 42015609](https://pubmed.ncbi.nlm.nih.gov/42015609/). *Psychophysiology*. [Review / Meta-Analysis]

• Koric L (2026). [PMID: 41883283](https://pubmed.ncbi.nlm.nih.gov/41883283/). *J Alzheimers Dis*. [Basic Science / Preclinical]

• Stewart R (2026). [PMID: 40838347](https://pubmed.ncbi.nlm.nih.gov/40838347/). *American journal of medical genetics. Part A*. [Case Report / Case Series]

• Oubre B (2026). [PMID: 40964858](https://pubmed.ncbi.nlm.nih.gov/40964858/). *Ann Neurol*. [Clinical Trial Publication]

• Şahan B (2026). [PMID: 41644709](https://pubmed.ncbi.nlm.nih.gov/41644709/). *Eye (London, England)*. [Case Report / Case Series]

• Martínez-Flores R (2026). [PMID: 42039626](https://pubmed.ncbi.nlm.nih.gov/42039626/). *bioRxiv*. [Case Report / Case Series]

• Fu Y (2026). [PMID: 41615782](https://pubmed.ncbi.nlm.nih.gov/41615782/). *J Parkinsons Dis*. [Basic Science / Preclinical]

• Tripathi P (2026). [PMID: 42210413](https://pubmed.ncbi.nlm.nih.gov/42210413/). *Acta Neuropathol Commun*. [Basic Science / Preclinical]