ATP13A2 encodes ATPase cation transporting 13A2 (1,180 aa). ATPase which acts as a lysosomal polyamine exporter with high affinity for spermine. Also stimulates cellular uptake of polyamines and protects against polyamine toxicity. Highest expression in Brain Cortex (117.5 TPM) and Brain Cerebellum (116.4 TPM).

Kufor-Rakeb syndrome is caused by mutations in the ATP13A2 gene on chromosome 1.

The ATP13A2 protein participates in ATP13A2 transports cations from cytosol to lysosomal lumen and ATP13A4,5 transport divalent ions from extracellular region to cytosol pathways.

ATP13A2 is classified as a druggable target (Druggable Genome and Transporter categories) with score 0.0.

Genetic testing for ATP13A2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Kufor-Rakeb syndrome has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 2 very common features, 11 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.

14 publications have been identified in PubMed for Kufor-Rakeb syndrome. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (29%), and Diagnostic / Biomarker (7%).

Recent Publications

• Roy S (2026). [PMID: 41493629](https://pubmed.ncbi.nlm.nih.gov/41493629/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Basic Science / Preclinical]

• Balbo B (2026). [PMID: 41935079](https://pubmed.ncbi.nlm.nih.gov/41935079/). *NPJ Parkinsons Dis*. [Review / Meta-Analysis]

• Erterek E (2026). [PMID: 41944191](https://pubmed.ncbi.nlm.nih.gov/41944191/). *J Neurochem*. [Basic Science / Preclinical]

• Kinet R (2025). [PMID: 41253848](https://pubmed.ncbi.nlm.nih.gov/41253848/). *NPJ Parkinson's disease*. [Basic Science / Preclinical]

• Khosravi S (2025). [PMID: 40028680](https://pubmed.ncbi.nlm.nih.gov/40028680/). *Movement disorders clinical practice*. [Case Report / Case Series]

• Méndez-Veras R (2025). [PMID: 41306646](https://pubmed.ncbi.nlm.nih.gov/41306646/). *Case reports in genetics*. [Case Report / Case Series]

• Tiryakiler AB (2025). [PMID: 41292106](https://pubmed.ncbi.nlm.nih.gov/41292106/). *Journal of neurochemistry*. [Diagnostic / Biomarker]

• Affronte L (2025). [PMID: 40799219](https://pubmed.ncbi.nlm.nih.gov/40799219/). *Frontiers in genetics*. [Epidemiology / Natural History]

• Samaddar M (2025). [PMID: 40848257](https://pubmed.ncbi.nlm.nih.gov/40848257/). *Cell reports*. [Basic Science / Preclinical]

• Uygun Ö (2025). [PMID: 40817817](https://pubmed.ncbi.nlm.nih.gov/40817817/). *Annals of clinical and translational neurology*. [Basic Science / Preclinical]