Peripheral Myelin Protein 22 (PMP22)
DSS; CMT1A; CMT1E; GAS3; HMSNIA; HNPP; Sp110
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).
Organism species: Homo sapiens (Human)
Organism species: Mus musculus (Mouse)
Organism species: Rattus norvegicus (Rat)