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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ECE1BA-20-REGO | 20 (40 μL) | 200 μL |
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| ECE1BA-20-REGR | 20 (40 μL) | 200 μL |
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| ECE1BA-20-ORGR | 20 (40 μL) | 200 μL |
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| ECE1BA-20-GOGR | 20 (40 μL) | 200 μL |
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| ECE1BA-20-GRRE | 20 (40 μL) | 200 μL |
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| ECE1BA-20-GROR | 20 (40 μL) | 200 μL |
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| ECE1BA-20-GRGO | 20 (40 μL) | 200 μL |
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| ECE1BA-20-AQOR | 20 (40 μL) | 200 μL |
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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]
Gene Symbol : ECE1
Gene Name : Endothelin converting enzyme 1
Chromosome : CHR 1: 213,455,40-212,172,46
Locus : 1p36.12
Alt. Genes : G3BP1
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