Aliases for EVC Gene
External Ids for EVC Gene
Previous GeneCards Identifiers for EVC Gene
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, Jul 2008]
GeneCards Summary for EVC Gene
EVC (EvC Ciliary Complex Subunit 1) is a Protein Coding gene. Diseases associated with EVC include Weyers Acrofacial Dysostosis and Ellis-Van Creveld Syndrome. Among its related pathways are Signaling by Hedgehog and Signaling by GPCR.
UniProtKB/Swiss-Prot for EVC Gene
Acts as a positive mediator of Hedgehog signaling indispensable for normal endochondral growth and skeletal development.