Primary Identifier | IPR026501 | Type | Family |
Short Name | Limbin/EVC |
description | EVC is a protein mutated in the human chondroectodermal dysplasia Ellis-van Creveld syndrome. Limbin or EVC2 interacts with AVC []. They act as positive mediators of Hedgehog signaling and play a critical role in bone formation and skeletal development []. |