MME

The gene MME encodes for the protein membrane metallo-endopeptidase (NEP), also known as neprilysin. NEP is a transmembrane glycoprotein that plays a crucial role in the degradation of various peptide substrates, including amyloid-β in Alzheimer's disease and neuropeptides in the nervous system. It operates through a zinc-dependent mechanism, acting as a key regulator in several biological processes. Mutations in the MME gene are associated with late-onset Charcot-Marie-Tooth disease type 2 (CMT2), a peripheral neuropathy characterized by progressive muscle weakness and atrophy. Research into MME mutations has led to advancements in understanding the molecular mechanisms of CMT2 and has potential implications for drug development targeting this disease.