ECE1

The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction.

Endothelin Converting Enzyme 1

Converts big endothelin-1 to endothelin-1.

Bradykinin catabolic process Source: BHF-UCL
Calcitonin catabolic process Source: BHF-UCL
Ear development Source: BHF-UCL
Embryonic digit morphogenesis Source: BHF-UCL
Endothelin maturation Source: BHF-UCL
G protein-coupled receptor signaling pathway Source: Reactome
Heart development Source: BHF-UCL
Hormone catabolic process Source: BHF-UCL
Peptide hormone processing Source: BHF-UCL
Pharyngeal system development Source: Ensembl
Positive regulation of receptor recycling Source: BHF-UCL
Protein processing Source: BHF-UCL
Regulation of systemic arterial blood pressure by endothelin Source: BHF-UCL
Regulation of vasoconstriction Source: BHF-UCL
Substance P catabolic process Source: BHF-UCL

Cell membrane

Hirschsprung disease, cardiac defects, and autonomic dysfunction (HCAD):
A disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction.

Cytoplasmic: 1-68
Helical: 69-89
Extracellular: 90-770