PPT1 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.
|Gene Name:||palmitoyl-protein thioesterase 1|
|Synonyms:||PPT1, CLN1, Palmitoyl-protein hydrolase 1, Palmitoyl-protein thioesterase, INCL, PPT-1, PPT|
|Target Sequences:||NM_000310 NP_000301.1 P50897|
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