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 Ellis-Van Creveld Syndrome and Weyers Acrofacial Dysostosis. Among its related pathways are Signaling by GPCR and Signaling by Hedgehog. An important paralog of this gene is EVC2.
UniProtKB/Swiss-Prot Summary for EVC Gene
Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development.