Reagents, Molecular Assay, Gene Anomaly, Mutation, CLN5
Definition : Molecular assay reagents intended to identify mutations in the ceroid-lipofuscinosis neuronal 5 (CLN5) gene, located at chromosome 13q21.1-q32, whose function is uncertain but has been associated with a putative lysosomal membrane protein. Mutations at this locus have been identified in patients with neuronal ceroid-lipofuscinoses (NCL) type 5.
Entry Terms : "Palmitoyl-Protein Thioesterase 1 (PPT1) Gene Mutation Detection Reagents" , "CLN5 Gene Mutation Detection Reagents"
UMDC code : 24346