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