PMP22 Recombinant Rabbit mAb (S-5305)

PMP22 is a four-transmembrane glycoprotein composed of 160 amino acids, primarily localized in the compact myelin of Schwann cells, where it plays a critical role in the formation and maintenance of myelin in the peripheral nervous system. Its expression level is highly sensitive to Schwann cell function, and gene dosage imbalances directly lead to disease: duplication mutations of the PMP22 gene result in protein overexpression and are the most common cause of Charcot-Marie-Tooth disease type 1A (CMT1A), while deletion mutations lead to protein insufficiency and are closely associated with hereditary neuropathy with liability to pressure palsies (HNPP). Beyond its classical myelin-related functions, studies have revealed that PMP22 may also participate in various biological processes including cell growth regulation, cell adhesion, and cytoskeletal organization. The importance of its function is also reflected in the severity of its pathogenic consequences: specific point mutations can lead to the more severe Dejerine-Sottas syndrome (CMT3), while a small number of mutations result in CMT1E accompanied by hearing loss—these phenotypic differences all stem from its differential effects on normal Schwann cell function and myelin stability.