Aliases for EVC2 Gene
External Ids for EVC2 Gene
Previous GeneCards Identifiers for EVC2 Gene
This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
GeneCards Summary for EVC2 Gene
EVC2 (EvC Ciliary Complex Subunit 2) is a Protein Coding gene. Diseases associated with EVC2 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 EVC.
UniProtKB/Swiss-Prot Summary for EVC2 Gene
Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis.