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
IF,IHC,WB
免疫原
Recombinant fusion protein containing a sequence corresponding to amino acids 670-770 of human ECE1 (NP_001388.1).
