Reagents, Molecular Assay, Gene Anomaly, Mutation, IKBKAP
Definition : Molecular assay reagents intended to identify mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP) gene, located at chromosome 9q31, which provides instructions to make IKAP protein found in variety of cells. The gene function is not fully known; it is probably involved in transcription. Mutations at this locus have been identified in patients with early-onset familial dysautonomia (hereditary sensory and autonomic neuropathy type III, HSAN-III).
Entry Terms : "Neuropathy Gene Mutation Detection Reagents" , "Type III Hereditary Sensory/Autonomic Neuropathy (HSAN-III) Riley-Day Syndrome" , "Familial Dysautonomia P-Reagents, Molecular Assay, Gene Anomaly, Mutation" , "IKBKAP Gene Mutation Detection Reagents"
UMDC code : 24479