EVC gene

The EVC gene provides instructions for a protein involved in primary cilia that regulates signaling pathways critical for bone and tooth development.

Normal Function

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.

Health Conditions Related to Genetic Changes

Ellis-van Creveld syndrome

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. Researchers believe that the loss of this protein's function may prevent normal Sonic Hedgehog signaling in the developing embryo, leading to abnormal bone growth and heart defects.

Weyers acrofacial dysostosis

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). 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.

Other Names for This Gene

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

Genomic Location

The EVC gene is found on chromosome 4.