IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, NOTCH3
Definition : Molecular assay reagents intended to identify mutations in the Notch homologue 3 (NOTCH3) gene, located at chromosome 19p13.2-p13.1, which encodes for the Notch3 receptor protein is located on the surface of the muscle cells that surround blood vessels. Notch3 receptors play a key role in the function and survival of vascular smooth muscle cells. Mutations at this locus have been identified in patients with inherited cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a disease characterized by migraine headaches linked to hemodynamic abnormalities.
Entry Terms : "Arteriopathy and Subcortical Infarcts and Leukoencephalopathy Gene Mutation Reagents" , "Familial Vascular Leukoencephalopathy Gene Mutation Reagents" , "Cerebral Autosomal Dominant Arteriopathy and Subcortical Infarcts and Leukoencephalopaty (CADASIL)" , "NOTCH3 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, NOTCH3"
UMDC code : 24639