IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, NPC2
Definition : Molecular assay reagents intended to identify mutations in the Niemann-Pick disease, type C2 (NPC2) gene, located at chromosome 14q24.3, which encodes for the protein NPC2 that is located inside lysosomes. The NPC2 protein binds to cholesterol and plays a role in moving cholesterol and certain other lipids (fats) out of the lysosomes to other parts of the cell. Mutations at this locus have been identified in patients with Niemann-Pick disease type C2.
Entry Terms : "Sphingomyelin/Cholesterol Lipidosis Reagents" , "Neuronal Cholesterol Lipidosis Reagents" , "Niemann-Pick Disease Type C2 (NPC2) Gene Mutation Reagents" , "NPC2 Gene Mutation Detecdtion Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, NPC2"
UMDC code : 24640