IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PPT1
Definition : Molecular assay reagents intended to identify mutations in the palmitoyl-protein thioesterase 1 (PPT1) gene, located at chromosome 1p32, which encodes for a glycoprotein that removes palmitate groups from cysteine residues in lipid-modified proteins. This genetic mutation has been identified in patients with neuronal ceroid-lipofuscinosis (CLN).
Entry Terms : "PPT1-Related Neuronal Ceroid-Lipofuscinoses Gene Mutation Reagents" , "Neuronal Ceroid-Lipofuscinoses (NCL) Gene Mutation Reagents" , "Ceroid Lipofuscinosis Gene Mutation Reagents" , "PPT1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PPT1"
UMDC code : 24915