The PPT1 gene provides instructions for making an enzyme called palmitoyl-protein thioesterase 1. This enzyme is found in structures called lysosomes, which are compartments within cells that break down and recycle different types of molecules. Palmitoyl-protein thioesterase 1 removes certain fats called long-chain fatty acids from specific proteins, typically a fatty acid called palmitate. Removing these fatty acids helps break the proteins down when they are no longer needed. Palmitoyl-protein thioesterase 1 is also thought to be involved in a variety of other cell functions, such as the development of synapses, which are the connections between nerve cells where cell-to-cell communication occurs.
Other Names
ceriod-lipofuscinosis, neuronal 1; CLN1; INCL; palmitoyl-protein hydrolase 1; PPT; PPT-1; PPT1_HUMAN
Related Genetics Topics
Identifiers
- NCBI Gene: 5538
- OMIM: 600722
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
