Reagents, Molecular Assay, Gene Anomaly, Mutation, SMN1
Definition : Molecular assay reagents intended to identify mutations in the survival of motor neuron 1, telomeric (SMN1) gene, located at chromosome 5q12.2-q13.3, which is part of a 500 kb inverted duplication on chromosome 5q13 that contains at least 4 genes and is prone to rearrangements. The gene encodes for a protein that localizes to both the cytoplasm and the nucleus. This inherited genetic mutation is associated with spinal muscular atrophy (SMA), a continuum range of early-onset (neonatal to young adult) disorders.
Entry Terms : "Chronic Spinal Muscular Atrophy Kugelberg-Welander Disease Gene Mutation Reagents" , "Infantile Muscular Atrophy Gene Mutation Reagents" , "Werding-Hoffmann Disease Gene Mutation Reagents" , "Arthrogryposis Multiplex Congenita-SMA (AMC-SMA) Gene Mutation Reagents" , "Congenital Axonal Neuropathy (CAN) Gene Mutation Reagents" , "Spinal Muscular Atrophy (SMA) Gene Mutation Reagents" , "SMN1 Gene Mutation Detection Reagents"
UMDC code : 24973