Background
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. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009],
Function
catalytic activity:Hydrolysis of the 21-Trp-|-Val-22 bond in big endothelin to form endothelin 1.,cofactor:Binds 1 zinc ion per subunit.,disease:Defects in ECE1 are a cause of Hirschsprung disease, cardiac defects and autonomic dysfunction [MIM:600423]. It is a form of Hirschsprung disease [MIM:142623] with skip-lesions defects, craniofacial abnormalities and other dysmorphic features, and autonomic dysfunction.,enzyme regulation:Inhibited by phosphoramidon.,function:Converts big endothelin-1 to endothelin-1.,similarity:Belongs to the peptidase M13 family.,subunit:Homodimer; disulfide-linked.,tissue specificity:All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and s
