Gene PPT1
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Also known as
CLN1, INCL, Palmitoyl-Protein Thioesterase 1Overview
PPT1 (Palmitoyl-Protein Thioesterase 1) encodes a lysosomal enzyme that removes fatty acid chains (specifically palmitate) from modified cysteine residues in proteins. This depalmitoylation process is essential for the normal degradation of lipid-modified proteins within lysosomes. The enzyme plays a critical role in cellular protein turnover and lysosomal function, particularly in neurons where there is high metabolic activity and continuous protein turnover. PPT1 is ubiquitously expressed but is especially important in brain tissue.Mutations in PPT1 cause infantile neuronal ceroid lipofuscinosis (INCL), also known as CLN1 disease or infantile Batten disease. This is a rare, fatal autosomal recessive neurodegenerative disorder that typically presents in infancy with developmental regression, seizures, visual impairment, and progressive motor and cognitive decline. The disease is caused by accumulation of autofluorescent storage material in neurons and other cells. INCL is the most severe form of the neuronal ceroid lipofuscinoses, with affected children typically not surviving beyond early childhood. Genetic testing and counseling are important for families with INCL, and research into enzyme replacement therapy and gene therapy is ongoing.