ECE1

Chr 1

endothelin converting enzyme 1

Also known as: ECE

NCBI Gene: 1889 ENSG00000117298 UniProt: P42892

The protein converts big endothelin-1 to endothelin-1, a vasoactive peptide important for vascular tone and development. Mutations cause Hirschsprung disease with cardiac defects and autonomic dysfunction, with autosomal dominant inheritance. This gene is highly constrained against loss-of-function variation (pLI 0.96), reflecting its critical role in cardiovascular and enteric nervous system development.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHirschsprung disease, cardiac defects, and autonomic dysfunction

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.32

LOEUF· LoF intol.

LOF

Mechanism· predicted

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