IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, IKBKG
Definition : Molecular assay reagents intended to identify mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKbKG) gene, located at chromosome Xq28, which encodes for a protein involved in regulating the nuclear factor kappa B, which controls the activity of other genes. Mutations at this locus have been identified in patients with incontinentia pigmenti (IP); mutations are also present in males with a type of hypohidrotic ectodermal dysplasia.
Entry Terms : "Incontinentia Pigmenti (IP) Diagnostic Reagents"
UMDC code : 24480