IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, NF2
Definition : Molecular assay reagents intended to identify mutations in the neurofibromin 2 (NF2) gene, located at chromosome 22q12.2, which encodes for the protein merlin (also known as schwannomin), made in Schwann cells. Merlin plays a role in controlling cell shape, cell movement, and communication between cells. Mutations at this locus have been identified in patients with neurofibromatosis type 2 (NF2), a young adult onset disease characterized by bilateral vestibular neoplasms of the Schwann cells of neurons (i.e., schwannomas) causing tinnitus, hearing loss, and loss of balance.
Entry Terms : "NF2-Related Meningioma Gene Mutation Reagents" , "Bilateral Acoustic Neurofibromatosis Gene Mutation Reagents" , "Central Neurofibromatosis Gene Mutation Reagents" , "Neurofibromatosis Type 2 (NF2) Gene Mutation Reagents" , "Schwannoma Gene Mutation Reagents" , "NF2 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, NF2"
UMDC code : 24638