| Protein Name | palmitoyl-protein thioesterase 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 5538 |
| Gene Symbol | PPT1 |
| UniProt | P50897 (PPT1_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
157
Total Number of Articles : 109 |
Description |
palmitoyl-protein thioesterase 1 |
| 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.[provided by RefSeq, Dec 2008] |
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| Properties | |