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Details of PPT1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| PPT1 | PPT | P50897 | PPT1_HUMAN | 5538
| ENSG00000131238
| Palmitoyl-protein thioesterase 1 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Neuronal ceroid lipofuscinosis 1 (CLN1) [MIM:256730]: 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). Note=The disease is caused by mutations affecting the gene represented in this entry. |
256730 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
| Ppt1 | Ppt1 | ppt-1 | Sp-Ppt1 |
