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