It catalyzes the reaction This enzyme belongs to the family of hydrolases, specifically those acting on thioester bonds.

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.

[1] The most common mutation results in intracellular accumulation of the polypeptide and undetectable enzyme activity in the brain.

Direct sequencing of cDNAs derived from brain RNA of INCL patients has shown a mis-sense transversion of A to T at nucleotide position 364, which results in substitution of Trp for Arg at position 122 in the protein - Arg 122 is immediately adjacent to a lipase consensus sequence that contains the putative active site Ser of PPT.

Human proteins containing this domain include: As of late 2007, 4 structures have been solved for this class of enzymes, with PDB accession codes 1EH5, 1EI9, 1EXW, and 1PJA.