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BIN1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

BIN1 gene

The BIN1 gene provides instructions for making a protein involved in cell transport, self-destruction, and the formation of muscle structures.

Normal Function

The BIN1 gene provides instructions for making a protein found in tissues throughout the body. It is involved in endocytosis (transporting materials from the cell surface into the cell) and apoptosis (programmed cell self-destruction). The BIN1 protein may also act as a tumor suppressor, preventing cells from growing or dividing in an uncontrolled manner.

Different versions (isoforms) of the protein are active in different tissues. The isoform expressed in muscle cells is essential for the formation of transverse tubules (or T tubules). These structures are found within the muscle cell membrane and are critical for muscle contraction and relaxation.

Health Conditions Related to Genetic Changes

Centronuclear myopathy

At least 10 mutations in the BIN1 gene have been linked to centronuclear myopathy, a condition characterized by weakness in the skeletal muscles used for movement.

  • Mechanism: Mutations in the BIN1 gene result in the production of a protein that cannot form T tubules.
  • Impact on Muscle: A shortage of T tubules alters the structure of muscle fibers, preventing them from contracting and relaxing normally.
  • Result: This structural abnormality in the muscle fibers is the underlying cause of the muscle weakness observed in individuals with this condition.

Frequently Asked Questions

While the primary symptoms are skeletal muscle weakness, BIN1-related centronuclear myopathy can sometimes involve other systems. Some individuals may experience respiratory muscle weakness, which can lead to breathing difficulties, particularly during sleep. Additionally, because the BIN1 protein is involved in cell transport and self-destruction in various tissues, clinicians monitor for potential cardiac involvement, although severe heart disease is less common than in some other myopathies. Regular cardiac and respiratory evaluations are part of standard monitoring.
Diagnosis typically involves a combination of clinical evaluation, genetic testing, and muscle biopsy. Genetic testing for mutations in the BIN1 gene is the definitive method for confirmation. A muscle biopsy may show characteristic features such as central nuclei (nuclei located in the center of the muscle fiber rather than the periphery) and a reduction in T-tubules. Electromyography (EMG) and muscle imaging (MRI) can also support the diagnosis by showing patterns of muscle involvement and electrical abnormalities.
The BIN1 protein is essential for forming transverse tubules (T-tubules) in muscle cells, which are structures that allow electrical signals to penetrate the muscle fiber and trigger contraction. When BIN1 mutations occur, the protein cannot properly form these T-tubules. This structural defect prevents the muscle fibers from contracting and relaxing efficiently, resulting in the progressive weakness characteristic of centronuclear myopathy.
There is currently no cure for BIN1-related centronuclear myopathy. Treatment is supportive, focusing on physical therapy to maintain range of motion, respiratory support if needed, and monitoring for complications. The prognosis varies significantly among individuals; some may have mild weakness that progresses slowly, while others may experience more rapid decline. Early intervention with multidisciplinary care can help maximize function and quality of life, and genetic counseling is important for family planning.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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