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EVC

EVC

Reviewed December 2012

What is the official name of the EVC gene?

The official name of this gene is “Ellis van Creveld syndrome.”

EVC is the gene's official symbol. The EVC 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 EVC gene?

The EVC gene provides instructions for making a protein whose function is unclear. However, it appears to be important for normal growth and development, particularly the development of bones and teeth. The EVC protein is found in primary cilia, which are microscopic, finger-like projections that stick out from the surface of cells and are involved in signaling pathways that transmit information between cells. In particular, the EVC protein is thought to help regulate a signaling pathway known as Sonic Hedgehog, which plays roles in cell growth, cell specialization, and the normal shaping (patterning) of many parts of the body.

EVC and another gene, EVC2, are located very close together on chromosome 4. Researchers believe that the two genes may have related functions and that their activity may be coordinated.

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

Ellis-van Creveld syndrome - caused by mutations in the EVC gene

More than 25 mutations in the EVC gene have been reported to cause Ellis-van Creveld syndrome, an inherited disorder characterized by dwarfism, abnormal nails and teeth, and heart defects. The mutations that cause this condition occur in both copies of the EVC gene in each cell. These genetic changes disrupt the normal function of the EVC protein or lead to the production of an abnormally small, nonfunctional version of the protein. Although it is unclear how the loss of this protein's function underlies the signs and symptoms of Ellis-van Creveld syndrome, researchers believe that it may prevent normal Sonic Hedgehog signaling in the developing embryo. Problems with this signaling pathway may ultimately lead to the abnormal bone growth and heart defects seen with this condition.

Weyers acrofacial dysostosis - caused by mutations in the EVC gene

At least one mutation in the EVC gene has been found to cause the characteristic features of Weyers acrofacial dysostosis, affecting the development of the teeth, nails, and bones. The signs and symptoms of Weyers acrofacial dysostosis are similar to, but typically milder than, those of Ellis-van Creveld syndrome.

The EVC gene mutation that causes Weyers acrofacial dysostosis occurs in one copy of the gene in each cell. It changes a single protein building block (amino acid) in the EVC protein, replacing the amino acid serine with the amino acid proline at position 307 (written as Ser307Pro). It is unclear how this genetic change leads to the specific features of Weyers acrofacial dysostosis. Studies suggest that the abnormal protein interferes with Sonic Hedgehog signaling in the developing embryo, disrupting the normal formation and growth of the teeth, nails, and bones.

Where is the EVC gene located?

Cytogenetic Location: 4p16

Molecular Location on chromosome 4: base pairs 5,711,188 to 5,829,004

The EVC gene is located on the short (p) arm of chromosome 4 at position 16.

The EVC gene is located on the short (p) arm of chromosome 4 at position 16.

More precisely, the EVC gene is located from base pair 5,711,188 to base pair 5,829,004 on chromosome 4.

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

Where can I find additional information about EVC?

You and your healthcare professional may find the following resources about EVC 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 EVC gene or gene products?

  • DWF-1
  • Ellis van Creveld syndrome protein
  • EVC1
  • EVC_HUMAN
  • EVCL

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 EVC?

amino acid ; cell ; chromosome ; dwarfism ; embryo ; gene ; mutation ; proline ; protein ; serine ; syndrome

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

See also Understanding Medical Terminology.

References (11 links)

 

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.

 
Reviewed: December 2012
Published: April 17, 2014