IGHMBP2
immunoglobulin mu DNA binding protein 2
Normal Function
Health Conditions Related to Genetic Changes
Spinal muscular atrophy with respiratory distress type 1
More than 60 mutations in the IGHMBP2 gene have been found to cause spinal muscular atrophy with respiratory distress type 1 (SMARD1). SMARD1 is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy. Most mutations that cause this condition change single protein building blocks (amino acids) in the IGHMBP2 protein and disrupt the protein's ability to unwind DNA and RNA. The loss of helicase function impedes DNA replication and the production of RNA and proteins. These problems particularly affect alpha-motor neurons, which are specialized cells in the brainstem and spinal cord that control muscle movements. Altered IGHMBP2 proteins cause these neurons to become damaged and die over time, although the exact mechanism is unknown. The cumulative death of alpha-motor neurons leads to breathing problems and progressive muscle weakness in children with SMARD1.
More About This Health ConditionRelated Conditions
Spinal muscular atrophy with respiratory distress type 1Charcot-Marie-Tooth disease
Health Conditions Related to Genetic Changes
More than 60 mutations in the IGHMBP2 gene have been found to cause spinal muscular atrophy with respiratory distress type 1 (SMARD1). SMARD1 is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy. Most mutations that cause this condition change single protein building blocks (amino acids) in the IGHMBP2 protein and disrupt the protein's ability to unwind DNA and RNA. The loss of helicase function impedes DNA replication and the production of RNA and proteins. These problems particularly affect alpha-motor neurons, which are specialized cells in the brainstem and spinal cord that control muscle movements. Altered IGHMBP2 proteins cause these neurons to become damaged and die over time, although the exact mechanism is unknown. The cumulative death of alpha-motor neurons leads to breathing problems and progressive muscle weakness in children with SMARD1.
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