?: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.
|