Species Human Entrez 5538 | Human Mouse Ensembl ENSG00000131238 | |
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Aliases PPT1, CLN1, INCL, PPT, palmitoyl-protein thioesterase 1 External IDs MGI: 1298204 HomoloGene: 7488 GeneCards: PPT1 | ||
Palmitoyl-protein thioesterase 1 (PPT-1), also known as palmitoyl-protein hydrolase 1, is an enzyme that in humans is encoded by the PPT1 gene.
Contents
Function
PPT-1 a member of the palmitoyl protein thioesterase family. PPT-1 is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. This enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues.
Clinical significance
Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4).
References
PPT1 Wikipedia(Text) CC BY-SA