Lysosomal Storage Disorder

Gene: ATP13A2

Green List (high evidence)

Protein is a lysosomal P5-type transport ATPase, the activity of which critically depends on catalytic autophosphorylation.

PMID: 28137957 - 3 families with complicated hereditary spastic paraplegia. Supported by functional studies showing increased lysosomal size with aberrant material inside, and reduced lysosome activity.

PMID: 31996848 - protein acts as a lysosomal polyamine exporter. At high concentrations polyamines induce cell toxicity, which is exacerbated by ATP13A2 loss due to lysosomal dysfunction, lysosomal rupture and cathepsin B activation.

Created: 24 Jul 2020, 1:05 a.m. | Last Modified: 24 Jul 2020, 1:05 a.m.

Panel Version: 0.37

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 78, autosomal recessive 617225

Publications

• 28137957
• 31996848