EVC2 : EvC ciliary complex subunit 2

Description

The EVC2 (EvC ciliary complex subunit 2) is a protein-coding gene located on chromosome 4.

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.

EVC2 is also known as LBN, WAD.

Associated Diseases

• Weyers acrofacial dysostosis
• Ellis Van Creveld syndrome
• Ellis-Van creveld syndrome
• Acrofacial dysostosis, Weyers type
• Ellis-van Creveld syndrome