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 (Ellis Van Creveld Syndrome 2) is a Protein Coding gene. Diseases associated with EVC2 include ellis-van creveld syndrome and evc2-related ellis-van creveld syndrome. Among its related pathways are Signaling by GPCR and Signaling by Hedgehog.
UniProtKB/Swiss-Prot for EVC2 Gene
Positive regulator of the hedgehog signaling pathway (By similarity). Plays a critical role in bone formation and skeletal development.