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.
Other Names
AMPH2; amphiphysin II; amphiphysin-like protein; AMPHL; BIN1_HUMAN; box-dependent myc-interacting protein 1; myc box-dependent-interacting protein 1; SH3P9
Related Genetics Topics
Identifiers
- NCBI Gene: 274
- OMIM: 601248
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
