EC Number   |
Natural Substrates |
|---|
    3.1.2.22 | more |
PPT1 mutations cause severe neurodegenerative storage disorder, termed infantile Batten, in humans, Schizosaccharomyces pombe is a genetically tractable model for the sutdy of this disease due to evolutionary highly conserved gene and function |
| 3.1.2.22 | more |
the enzyme has a role outside the lysosome in the brain and might be associated with synaptic functioning |
| 3.1.2.22 | more |
the enzyme is essential for both development and maintenance of cortical neurons, enzyme deficiency causes severe neurodegenerative disorders by loss of cortical neurons |
| 3.1.2.22 | more |
the enzyme is required for the efficient lysosomal degradation of thioesters derived from S-acylated proteins |
| 3.1.2.22 | more |
the most severe form of neuronal ceroid lipofuscinoses, infantile neuronal ceroid lipofuscinosis (INCL), is caused by mutations in the CLN1 gene, resulting in a deficiency of the lysosomal enzyme, palmitoyl protein thioesterase 1 |
