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Normal Function
The BIN1 gene provides instructions for making a protein that is found in tissues throughout the body, where it interacts with a variety of other proteins. The BIN1 protein is thought to be involved in the transportation of materials from the cell surface into the cell (endocytosis) and the self-destruction of cells (apoptosis). The BIN1 protein may act as a tumor suppressor protein, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way.
Several different versions (isoforms) of the BIN1 protein are produced from the BIN1 gene. These isoforms vary by size and are active in different tissues. The BIN1 protein isoform that is expressed in muscle cells is thought to be involved in the formation of structures called transverse tubules or T tubules. These structures are found within the membrane of muscle cells, where they play a role in muscle tensing (contraction) and relaxation.
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 ConditionOther Names for This Gene
- AMPH2
- amphiphysin II
- amphiphysin-like protein
- AMPHL
- BIN1_HUMAN
- box-dependent myc-interacting protein 1
- myc box-dependent-interacting protein 1
- SH3P9
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Bohm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforet P, Maisonobe T, Olive M, Gonzalez-Mera L, Fardeau M, Carriere N, Clavelou P, Eymard B, Bitoun M, Rendu J, Faure J, Weis J, Mandel JL, Romero NB, Laporte J. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. Brain. 2014 Dec;137(Pt 12):3160-70. doi: 10.1093/brain/awu272. Epub 2014 Sep 25. Citation on PubMed
- Jungbluth H, Gautel M. Pathogenic mechanisms in centronuclear myopathies. Front Aging Neurosci. 2014 Dec 19;6:339. doi: 10.3389/fnagi.2014.00339. eCollection 2014. Citation on PubMed or Free article on PubMed Central
- Jungbluth H, Wallgren-Pettersson C, Laporte J. Centronuclear (myotubular) myopathy. Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. Citation on PubMed or Free article on PubMed Central
- Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier JM, Biancalana V, Oldfors A, Mandel JL, Laporte J. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet. 2007 Sep;39(9):1134-9. doi: 10.1038/ng2086. Epub 2007 Aug 5. Citation on PubMed
- Romero NB. Centronuclear myopathies: a widening concept. Neuromuscul Disord. 2010 Apr;20(4):223-8. doi: 10.1016/j.nmd.2010.01.014. Epub 2010 Feb 23. Citation on PubMed
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