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VCL

VCL

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

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 NCBI 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?

Genetics Home Reference provides information about these conditions associated with changes in the VCL gene:
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.

Cardiomyopathy, dilated 1W (CMD1W): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by mutations affecting the gene represented in this entry.

Cardiomyopathy, familial hypertrophic 15 (CMH15): 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. The disease is caused by mutations affecting the gene represented in this entry.

NCBI 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
  • Familial hypertrophic cardiomyopathy 15
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the VCL gene and its association with health conditions.
OMIM
Number
Title

Where is the VCL gene located?

Cytogenetic Location: 10q22.2

Molecular Location on chromosome 10: base pairs 73,998,077 to 74,120,159

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 73,998,077 to base pair 74,120,159 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.

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
  • HEL114
  • MV
  • MVCL

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 ; hereditary ; hypertrophic ; hypertrophy ; intrafamilial variability ; morphology ; palpitations ; protein ; septum ; 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: December 16, 2014