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EVC

Reviewed May 2008

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.

What is the normal function of the EVC gene?

The EVC gene provides instructions for making a protein whose function is unknown; however, it appears to be important for normal growth and development. Researchers have determined that the EVC gene is active before birth in the developing heart, bones, kidneys, and lungs.

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 20 mutations in the EVC gene have been reported to cause Ellis-van Creveld syndrome. These mutations occur in both copies of the EVC gene in each cell. The genetic changes disrupt the normal function of the EVC protein or lead to the production of an abnormally small, nonfunctional version of the protein. It is unclear how a loss of this protein's function results in dwarfism, heart defects, and the other characteristic features of Ellis-van Creveld syndrome.

other disorders - associated with the EVC gene

A change in the EVC gene can also cause a skeletal disorder called Weyers acrodental dysostosis. This change occurs in one copy of the EVC gene in each cell. The signs and symptoms of Weyers acrodental dysostosis are similar to, but typically milder than, those of Ellis-van Creveld syndrome. People with Weyers acrodental dysostosis can have mild short stature, but are often of average height. Other common features include extra fingers and toes (polydactyly), unusually formed nails, and dental abnormalities.

Only one mutation in the EVC gene has been associated with Weyers acrodental dysostosis. This mutation affects a single protein building block (amino acid) used to make the EVC protein. Specifically, it replaces the amino acid serine with the amino acid proline at position 307 (written as Ser307Pro). How this genetic change leads to the signs and symptoms of this skeletal disorder is unknown.

Where is the EVC gene located?

Cytogenetic Location: 4p16

Molecular Location on chromosome 4: base pairs 5,763,824 to 5,881,684

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 5,763,824 to base pair 5,881,684 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 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?

acids ; amino acid ; cell ; chromosome ; dwarfism ; gene ; kidney ; mutation ; polydactyly ; protein ; serine ; short stature ; sign ; stature ; symptom ; syndrome

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

References (6 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: May 2008
Published: January 30, 2009