IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, NPC1
Definition : Molecular assay reagents intended to identify mutations in the Niemann-Pick disease, type C1 (NPC1) gene, located in at chromosome 18q11-q12, which encodes for the protein NPC1 that is located on the surface of enodosomes and lysosomes. The NPC1 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 C1, a fatal lipid storage disorder.
Entry Terms : "Niemann-Pick Disease Type C1 (NPC1) Gene Mutation Reagents" , "Sphingomyelin/Cholesterol Lipidosis Reagents" , "Neuronal Cholesterol Lipidosis Reagents" , "NPC1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, NPC1"
UMDC code : 24641