Peripheral Myelin Protein 22 (PMP22)

Peripheral myelin protein 22, also known as PMP22, is a protein encoded by the PMP22 gene. Alternative splicing of this gene results in three transcript variants that encode the same protein.

The integral membrane protein encoded by this gene is a hydrophobic, tetraspan glycoprotein expressed mainly in Schwann cells and is a major component of compact myelin in the peripheral nervous system.Various mutations of the gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and Hereditary neuropathy with liability to pressure palsies (HNPP).