ECE-1 Antibody

Endothelin-converting enzyme 1 (ECE-1) is an enzyme that hydrolyzes hydrolysis the 21-Trp-|-Val-22 bond in big endothelin, thus forming endothelin 1. Defects in ECE-1 are a cause of Hirschsprung disease, cardiac defects and autonomic dysfunction (HSCRCDAD). It is a form of Hirschsprung disease with skip-lesions defects, craniofacial abnormalities and other dysmorphic features, and autonomic dysfunction.