EVC2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human EVC2 wild-type allele is located in the vicinity of 4p16.2 and is approximately 181 kb in length. This allele, which encodes limbin protein, plays a role in the ciliary hedgehog signaling pathway. Mutations in the gene are associated with both Ellis-van Creveld syndrome (EvC) and Weyers acrofacial dysostosis.

**Synonyms:** - Ellis Van Creveld Syndrome 2 Gene - EvC Ciliary Complex Subunit 2 wt Allele - LBN - WAD