| Protein Name | endothelin converting enzyme 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 1889 |
| Gene Symbol | ECE1 |
| UniProt | P42892 (ECE1_HUMAN), A0A024RAB0 (A0A024RAB0_HUMAN), A1PUP8 (A1PUP8_HUMAN), A0A024RAB2 (A0A024RAB2_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
227
Total Number of Articles : 185 |
Description |
endothelin converting enzyme 1 |
| Gene Summary |
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] |
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