Ellis-van Creveld syndrome protein
Function
Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development.
Involvement in disease
Ellis-van Creveld syndrome
EVC
An autosomal recessive condition characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals.
None
The disease is caused by variants affecting the gene represented in this entry.
Acrofacial dysostosis, Weyers type
WAD
An autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung.
Cellular localization
- Cell membrane
- Single-pass membrane protein
- Cytoplasm
- Cytoskeleton
- Cilium basal body
- Cell projection
- Cilium
- Cell projection
- Cilium membrane
- EVC2 is required for the localization of EVC at the base of primary cilia. The EvC complex localizes at the base of cilia in the EvC zone of primary cilia in a EFCAB7-dependent manner.
Alternative names
EvC complex member EVC, DWF-1, Ellis-van Creveld syndrome protein, EVC