IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, JAG1
Definition : Molecular assay reagents intended to identify mutations in the jagged 1 (JAG1) gene, located at chromosome 20p12.1-p11.23, which encodes for a protein that acts as a ligand to Notch proteins, a family of transmembrane receptors. Mutations at this locus have been identified in patients with Alagille syndrome, a disorder characterized by highly clinically variable complex multisystem disorders.
Entry Terms : "JAG1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, JAG1"
UMDC code : 24577