IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PRKCG
Definition : Molecular assay reagents intended to identify mutations in the protein kinase C, gamma (PRKCG) gene, located at chromosome 19q13.4, which encodes for a calcium-activated and phospholipid-dependent enzyme and is known to be involved in diverse cellular signaling pathways. The enzyme of this gene is expressed solely in the brain and spinal cord, and its localization is restricted to neurons. This genetic mutation has been identified in patients with spinocerebellar ataxia type 14; mutations are also associated with axial myoclonus, cerebellar atrophy, cognitive deficit, tremor, and sensory loss.
Entry Terms : "Spinocerebellar Ataxia Type 14 Gene Mutation Reagents" , "PRKCG Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PRKCG"
UMDC code : 24918