EVC

This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq]

Full Name

Ellis van Creveld syndrome

Research Area

Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development.

Biological Process

Cartilage development Source: Ensembl
Endochondral bone growth Source: UniProtKB
Muscle organ development Source: ProtInc
Positive regulation of smoothened signaling pathway Source: UniProtKB
Skeletal system development Source: ProtInc
Smoothened signaling pathway Source: InterPro

Cellular Location

Cilium basal body; Cell membrane; Cilium membrane; Cilium. 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.

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.
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.

Topology

Extracellular: 1-25
Helical: 26-48
Cytoplasmic: 49-992