PPT1
Function
Removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons (PubMed:8816748).
Involvement in disease
Ceroid lipofuscinosis, neuronal, 1
CLN1
A form of neuronal ceroid lipofuscinosis with variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD).
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Glycosylated.
Sequence Similarities
Belongs to the palmitoyl-protein thioesterase family.
Cellular localization
- Lysosome
- Secreted
Alternative names
CLN1, PPT, PPT1, Palmitoyl-protein thioesterase 1, PPT-1, Palmitoyl-protein hydrolase 1