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.
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 neuronal ceroid lipofuscinosis type 1 (CLN1). Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses. [Review]
Warrier V; Vieira M; Mole SE.
Biochimica et Biophysica Acta. 1832(11):1827-30, 2013
References
Further reading Acyl-protein thioesterase
External links GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinosis