BIN1
bridging integrator 1
Normal Function
Health Conditions Related to Genetic Changes
Centronuclear myopathy
At least 10 mutations in the BIN1 gene have been found to cause centronuclear myopathy, a condition that is characterized by muscle weakness (myopathy) in the skeletal muscles, which are the muscles used for movement. Most of these mutations change single protein building blocks (amino acids) in the BIN1 protein. BIN1 gene mutations result in the production of a protein that cannot form T tubules. A shortage of T tubules in muscle fibers alters their structure, which prevents them from contracting and relaxing normally. The abnormal muscle fibers underlie the muscle weakness characteristic of centronuclear myopathy.
More About This Health ConditionRelated Conditions
Centronuclear myopathy
Health Conditions Related to Genetic Changes
At least 10 mutations in the BIN1 gene have been found to cause centronuclear myopathy, a condition that is characterized by muscle weakness (myopathy) in the skeletal muscles, which are the muscles used for movement. Most of these mutations change single protein building blocks (amino acids) in the BIN1 protein. BIN1 gene mutations result in the production of a protein that cannot form T tubules. A shortage of T tubules in muscle fibers alters their structure, which prevents them from contracting and relaxing normally. The abnormal muscle fibers underlie the muscle weakness characteristic of centronuclear myopathy.