IGHMBP2 (Immunoglobulin Mu Binding Protein 2) is a Protein Coding gene. Diseases associated with IGHMBP2 include Neuronopathy, Distal Hereditary Motor, Type Vi and Charcot-Marie-Tooth Disease, Axonal, Type 2S. IGHMBP2 encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1.
