| Gene Symbol |
VCL
|
| Gene Synonyms |
MV MVCL VINC CMD1W CMH15 HEL114 |
| Gene Full Name |
vinculin |
| Gene Summary |
Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] |
| Molecular Weight(MW) |
124 kDa(Observed band size: kDa) |
| Function |
Vinculin (VCL) is a cytoskeletal protein associated with cell-cell and cell-extracellular matrix adherens-type junctions. It functions as one of several interacting proteins involved in anchoring F-actin to the membrane. It has been shown that a sequence of molecular interactions might be involved in the transmembrane assembly of adhesion plaques. In the assembly of adhesion plaques, the beta subunit of integrin binds to talin. Talin binds to vinculin that interacts with alpha-actinin and possibly with itself. Since alpha-actinin binds to and cross-links actin filaments, vinculin represents a key element in the transmembrane linkage of the extracellular matrix to the cytoplasmic microfilament system. Mutations in the gene can result in cardiomyopathy dilated 1W or familial hypertrophic 15. |
| Cellular Localization |
Cell junction,Cell membrane,Cell projection,Cytoplasm,Cytoskeleton,Membrane |