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Official Full Name
palmitoyl-protein thioesterase 1
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.
PPT1; palmitoyl-protein thioesterase 1; PPT; ceroid lipofuscinosis; neuronal 1; infantile; CLN1; INCL; PPT-1; palmitoyl-protein hydrolase 1; ceroid-palmitoyl-palmitoyl-protein thioesterase 1; PPT, CLN1, INCL; palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile); zgc:63969; wu:fj17f04

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