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The official name of this gene is “bridging integrator 1.”
BIN1 is the gene's official symbol. The BIN1 gene is also known by other names, listed below.
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 transporting 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 (expressed) in different tissues. The BIN1 protein isoform that is expressed in muscle cells is thought to be involved in the formation of cell membrane structures called transverse tubules or T tubules. These structures are found solely in the membranes of muscle cells, and they play a role in muscle tensing (contraction) and relaxation.
At least three mutations in the BIN1 gene have been found to cause centronuclear myopathy. Most of these mutations change single protein building blocks (amino acids) in the BIN1 protein, which interferes with the protein's ability to interact with other proteins. BIN1 gene mutations also likely disrupt the formation of T tubules. Abnormal T tubules are thought to impair muscle cell function. These abnormalities of the BIN1 protein result in muscle weakness and the other signs and symptoms of centronuclear myopathy.
Cytogenetic Location: 2q14
Molecular Location on chromosome 2: base pairs 127,048,022 to 127,107,326
The BIN1 gene is located on the long (q) arm of chromosome 2 at position 14.
More precisely, the BIN1 gene is located from base pair 127,048,022 to base pair 127,107,326 on chromosome 2.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about BIN1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; apoptosis ; cell ; cell membrane ; contraction ; endocytosis ; expressed ; gene ; isoforms ; muscle cell ; muscle cells ; protein ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.