Abstract
Mutations in the CLN5 (ceroid lipofuscinoses, neuronal 5) gene cause CLN5 Batten disease, a childhood fatal neurodegenerative disorder. Symptoms include motor decline, blindness, seizures and cognitive decline, and there is no cure.
The CLN5 gene encodes the CLN5 lysosomal protein, which has unknown structure and function. This research aimed to determine the structure of the CLN5 protein to reveal insights into its potential functions and how it causes Batten disease.