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ECE1
The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologicallyactive peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomicdysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for thisgene.(provided by RefSeq, Sep 2009)The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologicallyactive peptides
Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomicdysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for thisgene.(provided by RefSeq, Sep 2009)
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