Features include always present findings: Resting tremor, Parkinsonism, Cogwheel rigidity, and Spasticity; and very common findings: Slowness of movement (bradykinesia) and Hypomimic face. 8 total HPO annotations.

ATP6AP2 encodes ATPase H+ transporting accessory protein 2 (350 aa). Multifunctional protein which functions as a renin, prorenin cellular receptor and is involved in the assembly of the lysosomal proton-transporting V-type ATPase (V-ATPase) and the acidification of the endo-lysosomal system. Highest expression in Cells Cultured fibroblasts (171.6 TPM) and Artery Aorta (154.4 TPM).

X-linked parkinsonism-spasticity syndrome is associated with mutations in the ATP6AP2 gene on chromosome X.

The ATP6AP2 protein participates in Metabolism of Angiotensinogen to Angiotensins pathway.

ATP6AP2 is classified as a druggable target (Druggable Genome, External Side Of Plasma Membrane, and Transporter categories) with score 0.0.

Genetic testing for ATP6AP2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for X-linked parkinsonism-spasticity syndrome has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 2 very common features, 2 common features.

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

No clinical trials have been registered for X-linked parkinsonism-spasticity syndrome.

208 publications have been identified in PubMed for X-linked parkinsonism-spasticity syndrome. Kisho has analyzed 162 by research type. Research spans Review / Meta-Analysis (42%), Basic Science / Preclinical (24%), and Case Report / Case Series (16%).