ECE1 (NM_001113347) - endothelin converting enzyme 1
Endothelin-Converting Enzyme 1 Isoform 3
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Protein
Kinases
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Protein 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].
- Strand
- -
- Chromosome
- 1
- Protein
- 758 residues
- All mutations
- 117
- PTM sites
- 22
- CDS
- 21,546,447 - 21,605,927
- Transcription
- 21,543,739 - 21,606,183
Usage summary
Network
PTM site
Kinases group
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Kinase, PTM site or protein
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