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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?
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.
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?
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 EVC?
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.