Entrez gene ID | | 5538 |
Official gene symbol | | PPT1 |
Full name | | palmitoyl-protein thioesterase 1 |
Aliases | | ,CLN1,INCL,PPT, |
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. |
Location | | Chromosome: 1 Locus: 1p32 |
Gene position | | 40563142 - 40538382 Map Viewer |
Gene orientation | | minus |
Gene size | | 24761 bp |
Gene sequence |
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OMIM ID | | 600722 |
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