EB3 antikoerper, EBF3 antikoerper, EBF3-S antikoerper, RP3 antikoerper, AI790651 antikoerper, EB2 antikoerper, MGC68667 antikoerper, zgc:114065 antikoerper, fj35g02 antikoerper, wu:fj35g02 antikoerper, zgc:91952 antikoerper, microtubule associated protein RP/EB family member 3 antikoerper, microtubule-associated protein, RP/EB family, member 3 antikoerper, microtubule associated protein RP/EB family member 3 S homeolog antikoerper, microtubule-associated protein, RP/EB family, member 3a antikoerper, microtubule-associated protein, RP/EB family, member 3b antikoerper, MAPRE3 antikoerper, Mapre3 antikoerper, mapre3.S antikoerper, mapre3a antikoerper, mapre3b antikoerper
Hintergrund
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.