IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PANK2
Definition : Molecular assay reagents intended to identify mutations in the neurodegeneration, pantothenate kinase-associated (PANK2) gene, located at chromosome 20p13, which encodes for the enzyme pantothenate kinase 2 that is active in mitochondria. Pantothenate kinase 2 regulates the formation of Coenzyme A. Mutations at this locus have been identified in patients with pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome) and with HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) syndrome.
Entry Terms : "Dystonia Gene Mutation Reagents" , "Pigmentosa/Pallidal Degeneration (HARP) Syndrome Gene Mutation Reagents" , "Neurodegeneration Hypoprebetalipoproteinemia/Acanthocytosis/Retinitis Gene Mutation Reagents" , "Pantothenate Kinase Gene Mutation Reagents" , "Hallervorden-Spatz Syndrome Gene Mutation Reagents" , "PANK2 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PANK2"
UMDC code : 24651