VCL, Official Symbol VCLprovided by HGNC Official Full Name vinculinprovided by HGNC Primary source HGNC:HGNC:12665 See related Ensembl:ENSG00000035403 MIM:193065; AllianceGenome:HGNC:12665 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MV; MVCL; CMD1W; CMH15; HEL114 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] Expression Ubiquitous expression in endometrium (RPKM 87.7), prostate (RPKM 70.2) and 25 other tissues See more Orthologs mouse all