PPT1 : palmitoyl-protein thioesterase 1
Description
The PPT1 gene provides instructions for making an enzyme called palmitoyl-protein thioesterase 1. This enzyme is crucial for the proper functioning of lysosomes, the cell‘s recycling centers. PPT1 breaks down a specific type of fat molecule called palmitoyl-protein thioesters, ensuring efficient lysosomal activity. Mutations in the PPT1 gene lead to a buildup of these fats, causing a range of health issues.
Associated Diseases
Did you know?
PPT1 deficiency is a rare genetic disorder, affecting about 1 in 100,000 people worldwide.
