IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, SLC12A3
Definition : Molecular assay reagents intended to identify mutations in the solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3) gene, located at chromosome 16q13, which encodes for a protein that acts as a cotransporter, mediating sodium-chloride reabsorbtion in the distal convoluted tubule of the kidney. This inherited genetic mutation has been identified in patients with familial hypokalemia-hypomagnesemia (Gitelman's syndrome).
Entry Terms : "Gitelman Syndrome Gene Mutation Reagents" , "Hypokalemic Alkalosis/Hypomagnesemia Gene Mutation Reagents" , "Familial hypokalemia-Hypomagnesemia Gene Mutation Reagents" , "SLC12A3 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, SLC12A3"
UMDC code : 24966