Features include always present findings: Action tremor, Shrinkage of the cerebellum (cerebellar atrophy), Ataxia, and Motor delay and others; and common findings: Difficulty swallowing (dysphagia), Dysarthria, Low muscle tone (hypotonia), and Slow saccadic eye movements. 15 total HPO annotations.

ATP2B3 encodes ATPase plasma membrane Ca2+ transporting 3 (1,220 aa). ATP-driven Ca(2+) ion pump involved in the maintenance of basal intracellular Ca(2+) levels at the presynaptic terminals. Highest expression in Brain Cerebellum (38.5 TPM) and Brain Cerebellar Hemisphere (38.1 TPM).

X-linked progressive cerebellar ataxia is associated with mutations in the ATP2B3 gene on chromosome X.

ATP2B3 is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, and Transporter categories) with score 3.3.

Genetic testing for ATP2B3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 4 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.

14 publications have been identified in PubMed for X-linked progressive cerebellar ataxia. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (36%), and Review / Meta-Analysis (14%).