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The official name of this gene is “Ellis van Creveld syndrome 2.”
EVC2 is the gene's official symbol. The EVC2 gene is also known by other names, listed below.
The EVC2 gene provides instructions for making a protein whose function is unknown. However, it appears to be important for normal growth and development, particularly the development of bones and teeth. The EVC2 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 EVC2 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.
EVC2 and another gene, EVC, 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.
More than 30 mutations in the EVC2 gene have been found 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 EVC2 gene in each cell. Most of the genetic changes lead to the production of an abnormally small, nonfunctional version of the EVC2 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.
At least three mutations in the EVC2 gene have been found to cause Weyers acrofacial dysostosis, a condition that affects the development of the teeth, nails, and bones. Its signs and symptoms are similar to, but typically milder than, those of Ellis-van Creveld syndrome.
The mutations that cause Weyers acrofacial dysostosis occur in one copy of the EVC2 gene in each cell. Each mutation changes a single protein building block (amino acid) near the end of the EVC2 protein. These mutations probably result in the production of an abnormally short, malfunctioning version of the protein. It is unclear how the defective protein leads to the specific features of Weyers acrofacial dysostosis. Studies suggest that it interferes with Sonic Hedgehog signaling in the developing embryo, disrupting the normal formation and growth of the teeth, nails, and bones.
Cytogenetic Location: 4p16.2
Molecular Location on chromosome 4: base pairs 5,534,396 to 5,709,547
The EVC2 gene is located on the short (p) arm of chromosome 4 at position 16.2.
More precisely, the EVC2 gene is located from base pair 5,534,396 to base pair 5,709,547 on chromosome 4.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about EVC2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
amino acid ; cell ; chromosome ; dwarfism ; embryo ; gene ; inherited ; mutation ; protein ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.