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ece1

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Official Full Name
endothelin converting enzyme 1
Background
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]
Synonyms
ECE1; endothelin converting enzyme 1; ECE; endothelin-converting enzyme 1; ECE-1; endothelin converting enzyme-1; zgc:154079

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