PPT1 : palmitoyl-protein thioesterase 1

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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

• Infantile neuronal ceroid lipofuscinosis (INCL), also known as Batten disease

Did you know?

PPT1 deficiency is a rare genetic disorder, affecting about 1 in 100,000 people worldwide.