| PPT1 |
| LOCUS ID | 5538 | ||||||||||
| GENE_SYMBOL | PPT1 | ||||||||||
| GENE NAME | palmitoyl-protein t | ||||||||||
| SYNONYMNS | PPT, CLN1, INCL | ||||||||||
| CHROMOSOME | 1 | ||||||||||
| HOMOLOGENE ID | 69192 |
| microRNAs | NA | NA |
| GENE SUMMARY |
|---|
| The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene. |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Neuropathy | 1. We found that ER? and/or ER? activation using their agonists (0.5?mg/kg E2, PPT or DPN) ameliorate memory impairment in the Morris water maze and Y-maze tests, increase hippocampal neurogenesis and prevent hippocampal apoptotic responses. | 30201537 |