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.
应用类型
WB,IHC, IF/ICC
免疫原
Recombinant fusion protein of human ECE1(NP_001388.1).
