IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, KAL 1
Definition : Molecular assay reagents intended to identify mutations in the Kallmann syndrome 1 sequence (KAL1) gene, located at chromosome Xp22.3, which encodes for the protein anosmin. The protein anosmin is important in the migration of neurons and olfactory nerves to the hypothalamus. Mutations at this locus have been identified in patients with Kallmann's syndrome, a form of hypothalamic hypogonadism.
Entry Terms : "Renal Agenesis Gene Mutation Reagents" , "Kallmann Syndrome Type 1 Gene Mutation Reagents" , "KAL Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, KAL"
UMDC code : 24586