PMP 22 Gene

Publisher Summary This chapter reviews the structure, regulation, and biological function of peripheral myelin protein 22 (PMP22) in myelination, myelin maintenance, and disease. The PMP22 is a minor component of the myelin sheath of peripheral nerves. It belongs to a family of membrane proteins that is characterized by four hydrophobic domains and conserved amino acid motifs. PMP22 plays a crucial functional role in peripheral nerves based on the observation that genetic alterations in the PMP22 gene lead to various forms of myelination deficiencies in humans and rodents. PMP22 is widely expressed in neural and nonneural tissues during embryonic development and in the adult. PMP22 appears to be a valuable marker for PNS progenitors in rat embryos, but not for early mouse-neural-crest derivatives. The genomic structure of the human PMP22 gene has been determined. The chapter further discusses the regulation of PMP22 and its role in hereditary motor and sensory neuropathies in human and rodents.