PPT1


Palmitoyl-protein thioesterase 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.
Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.
Warrier V; Vieira M; Mole SE.
Biochimica et Biophysica Acta. 1832:1827-30, 2013>