IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, KCNQ4
Definition : Molecular assay reagents intended to identify mutations in the potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4) gene, located at chromosome 1p34, which encodes for a protein that forms potassium channels thought to be critical in the regulation of neuronal excitability, particularly in the sensor cells of the cochlea. Mutations at this locus have been identified in patients with nonsyndromic sensorineural deafness, type 2 (DFNA2)
Entry Terms : "Congenital Deafness Type 2 Gene Mutation Reagents" , "Deafness Gene Mutation Reagents" , "KCNQ4 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, KCNQ4"
UMDC code : 24584