EVC : EvC ciliary complex subunit 1

Description

The EVC (EvC ciliary complex subunit 1) is a protein-coding gene located on chromosome 4.

The EVC gene provides instructions for making a protein with an unclear function. However, it plays a vital role in normal growth and development, particularly bone and tooth development. The EVC protein resides in primary cilia, microscopic finger-like projections on cell surfaces that participate in intercellular signaling pathways. Notably, EVC is believed to regulate the Sonic Hedgehog signaling pathway, which governs cell growth, specialization, and body shaping. Interestingly, EVC and its close neighbor on chromosome 4, EVC2, are thought to have related functions and coordinated activity.

EVC is also known as DWF-1, EVC1, EVCL.

Associated Diseases

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