Disease:Defects in VCL are the cause of cardiomyopathy dilated type 1W (CMD1W) [MIM:611407]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function , resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ,Function:Involved in cell adhesion. May be involved in the attachment of the actin-based microfilaments to the plasma membrane. May also play important roles in cell morphology and locomotion. ,online information:Vinculin entry ,PTM:Aceylated; mainly by myristic acid but also small amount of palmitic acid. ,PTM:Phosphorylated; on serines , threonines and tyrosines. Phosphorylation on Tyr-1133 in activated platelets affects head-tail interactions and cell spreading but has no effect on actin binding nor on localization to focal adhesion plaques. ,similarity:Belongs to the vinculin/alpha-catenin family. ,subcellular location:Cytoplasmic face of adhesion plaques. ,subunit:Exhibits self-association properties. Interacts with NRAP and SORBS1 (By similarity) . Interacts with TLN1. Interacts with SYNM. ,tissue specificity:Metavinculin is muscle-specific. ,
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