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
应用类型
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免疫原
Human recombinant protein fragment corresponding to amino acids 486-770 of human ECE1 (NP_001388) produced in E.coli.
