| Primary Identifier | IPR029736 | Type | Family |
| Short Name | ECEL1 |
| description | Endothelin-converting enzyme-like 1 (ECEL1) is highly expressed in neuronswithin the central and peripheral nervous system in humans and rodents [].Mutations in ECEL1 gene cause distal arthrogryposis type 5D (DA5D), which is a rare disease characterised by congenital contractures of the hands and feet, along with distinctive facial features, including ptosis [, ]. |
