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.
Alternative names and synonyms associated with Endothelin-Converting Enzyme 1 (ECE1)
endothelin converting enzyme 1 (ECE1) anticorps
endothelin converting enzyme like 1 (ECEL1) anticorps
endothelin converting enzyme 1 (Ece1) anticorps
endothelin converting enzyme 1 L homeolog (ece1.L) anticorps