PMP22

Peripheral Myelin Protein 22 (PMP22), also known as GAS3, is a core structural protein in the peripheral nervous system myelin. It maintains sheath integrity by interacting with proteins like P0 and MPZ, regulating Schwann cell proliferation and differentiation to ensure efficient nerve impulse conduction.
Abnormal PMP22 expression or mutations cause peripheral neuropathies: CMT1A (gene duplication) leads to demyelinating neuropathy; HNPP (deletion) triggers pressure-induced palsies; DSS (point mutations) results in severe early-onset disease. Symptomatic treatments are current standards, but ASO therapies targeting PMP22 overexpression in CMT1A are under clinical evaluation to restore myelin function.