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: 18.104.22.168; ceroid-palmitoyl-palmitoyl-protein thioesterase 1; Palmitoyl-protein hydrolase 1; Palmitoyl-protein thioesterase 1; PPT-1; PPT1
Gene Aliases: 9530043G02Rik; AA960502; C77813; CLN1; D4Ertd184e; INCL; PPT; PPT1