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.
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Protein Aliases: ceroid-palmitoyl-palmitoyl-protein thioesterase 1; CLN1; INCL; Palmitoyl-protein hydrolase 1; Palmitoyl-protein thioesterase 1; palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile); PPT-1
Gene Aliases: CLN1; INCL; PPT; PPT1
UniProt ID: (Human) P50897