ECE1, Official Symbol ECE1provided by HGNC Official Full Name endothelin converting enzyme 1provided by HGNC Primary source HGNC:HGNC:3146 See related Ensembl:ENSG00000117298 MIM:600423; AllianceGenome:HGNC:3146 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ECE 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] Expression Ubiquitous expression in adrenal (RPKM 34.3), fat (RPKM 29.1) and 25 other tissues See more Orthologs mouse all