Entrez gene ID | | 1889 |
Official gene symbol | | ECE1 |
Full name | | endothelin converting enzyme 1 |
Aliases | | ,ECE, |
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. |
Location | | Chromosome: 1 Locus: 1p36.1 |
Gene position | | 21672034 - 21543740 Map Viewer |
Gene orientation | | minus |
Gene size | | 128295 bp |
Gene sequence |
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OMIM ID | | 600423 |