Description
Endothelin converting enzyme 1, also known as ECE1, is an enzyme which in humans is encoded by the ECE1 gene. 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