Aliases for ECE1 Gene
External Ids for ECE1 Gene
Previous HGNC Symbols for ECE1 Gene
Previous GeneCards Identifiers for ECE1 Gene
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]
GeneCards Summary for ECE1 Gene
ECE1 (Endothelin Converting Enzyme 1) is a Protein Coding gene. Diseases associated with ECE1 include Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction and Hypertension, Essential. Among its related pathways are Peptide ligand-binding receptors and Endothelin Pathways. GO annotations related to this gene include protein homodimerization activity and endopeptidase activity. An important paralog of this gene is ECE2.
UniProtKB/Swiss-Prot for ECE1 Gene
Converts big endothelin-1 to endothelin-1.