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VCL
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VCL

The information on this page was automatically extracted from online scientific databases.

On this page:

What is the official name of the VCL gene?

The official name of this gene is “vinculin.”

VCL is the gene's official symbol. The VCL gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the VCL gene?

From Entrez GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion.

How are changes in the VCL gene related to health conditions?

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the VCL gene's known or predicted involvement in human disease.

Defects in VCL are the cause of cardiomyopathy dilated type 1W (CMD1W)[1]This link leads to a site outside Genetics Home Reference.. 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.

Defects in VCL are the cause of familial hypertrophic cardiomyopathy type 15 (CMH15)[2]This link leads to a site outside Genetics Home Reference.. It is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

Entrez GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the VCL gene.
  • Dilated cardiomyopathy 1W[1]This link leads to a site outside Genetics Home Reference.
  • Familial hypertrophic cardiomyopathy 15[2]This link leads to a site outside Genetics Home Reference.
UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number		Main Topic
[1]611407This link leads to a site outside Genetics Home Reference.CARDIOMYOPATHY, DILATED, 1W
[2]613255This link leads to a site outside Genetics Home Reference.CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
193065This link leads to a site outside Genetics Home Reference.VINCULIN

Where is the VCL gene located?

Cytogenetic Location: 10q22.2

Molecular Location on chromosome 10: base pairs 75,757,871 to 75,879,917

The VCL gene is located on the long (q) arm of chromosome 10 at position 22.2.

The VCL gene is located on the long (q) arm of chromosome 10 at position 22.2.

More precisely, the VCL gene is located from base pair 75,757,871 to base pair 75,879,917 on chromosome 10.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about VCL?

You and your healthcare professional may find the following resources about VCL helpful.

  • Gene TestsThis link leads to a site outside Genetics Home Reference. - Genetic tests ordered by healthcare professionals

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the VCL gene or gene products?

  • CMD1W
  • CMH15
  • MVCL

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding VCL?

actin ; arrhythmia ; benign ; cardiac ; cardiomyopathy ; cell ; cell adhesion ; dilated ; dilation ; dyspnea ; familial ; gene ; heart failure ; hypertrophic ; hypertrophy ; intrafamilial variability ; morphology ; palpitations ; protein ; septum ; symptom ; syncope ; transcript

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

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? in the Handbook.

 
Published: February 18, 2013