Ppt1 Gene Palmitoyl Protein Thioesterase 1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
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| Attribute | Value |
|---|---|
| Gene Symbol | PPT1 |
| Gene Name | Palmitoyl-Protein Thioesterase 1 |
| Official Full Name | Palmitoyl-Protein Thioesterase 1 |
| Chromosomal Location | 1p34.2 |
| GRCh38 Coordinates | chr1:40,285,938-40,313,917 |
| NCBI Gene ID | 5538 |
| OMIM ID | 256730 |
| Ensembl ID | ENSG00000131238 |
| UniProt ID | P60617 |
| Gene Family | Palmitoyl-protein thioesterase family |
The PPT1 gene encodes palmitoyl-protein thioesterase 1 (PPT1), a lysosomal enzyme that catalyzes the removal of palmitate (C16:0) fatty acid chains from cysteine residues of proteins. This post-translational modification (S-acylation/palmitoylation) regulates protein localization and function. Mutations in PPT1 cause Infantile Neuronal Ceroid Lipofuscinosis (INCL), the most severe form of Batten disease[1].
PPT1 is a 306-amino acid enzyme (34 kDa) that functions as a homodimer in the lysosome. It catalyzes:
Palmitoyl-protein + H₂O → Protein + Palmitate
This reaction removes lipid modifications from proteins, allowing their degradation in the lysosome[1].
PPT1 interacts with:
PPT1 mutations cause the most severe form of NCL, characterized by[1]:
| Feature | Onset | Progression |
|---|---|---|
| Developmental arrest | 6-12 months | Rapid decline |
| Vision loss | 12-18 months | Blindness by 2 years |
| Seizures | 12-18 months | Progressive myoclonic |
| Hypotonia | 6-12 months | Severe motor impairment |
| Microcephaly | 1-2 years | Progressive |
| Death | 3-10 years | Respiratory failure |
| Mutation | Type | Frequency | Effect |
|---|---|---|---|
| p.R122X | Nonsense | 25% | Truncated enzyme |
| p.T75P | Missense | 15% | No activity |
| p.D208V | Missense | 10% | Severely reduced |
| p.L218P | Missense | 8% | No activity |
| p.W404X | Nonsense | 5% | Truncated |
Several clinical trials are investigating gene therapy and enzyme replacement approaches for INCL.
The study of Ppt1 Gene Palmitoyl Protein Thioesterase 1 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Last updated: March 2026