EVC wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human EVC wild-type allele is located in the vicinity of 4p16.2 and is approximately 118 kb in length. This allele, which encodes EvC complex member EVC protein, is involved in mediating signal transduction between ciliary proteins and the hedgehog signaling pathway. Mutations in the gene are associated with both Ellis-van Creveld syndrome (EvC) and Weyers acrofacial dysostosis.

**Synonyms:** - DWF-1 - EVC1 - EVCL - Ellis Van Creveld Protein Gene - Ellis Van Creveld Syndrome Gene - EvC Ciliary Complex Subunit 1 wt Allele