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ECE-1 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.
Gene Name: | endothelin converting enzyme 1 |
Family/Subfamily: | Protease , Metallopeptidase M13 |
Synonyms: | ECE1, ECE-1, ECE, ET-converting enzyme-1, Endothelin converting enzyme 1, Endothelin-converting enzyme, ET-1 converting enzyme-1, Endothelin-converting enzyme 1, HECE-1 |
Target Sequences: | NM_001397 NP_001388.1 P42892 |
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