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pmp22

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Official Full Name
peripheral myelin protein 22
Background
PMP-22 (Peripheral Myelin Protein) is a glycoprotein expressed in the compact myolin of the peripheral nervous system. In the peripheral nervous system, PMP-22 is produced by myelinating Schwann cells and is coexpressed with the genes for myelin basic protein (MBP) and protein P0 during nerve development and regeneration. Alterations in the level of this protein cause several genetic human diseases. If the protein is duplicated, patients develop Charcot-Marie-Tooth disease. If one copy of the gene is deleted, they suffer from the inherited tendency to pressure palsies.
Synonyms
PMP22; peripheral myelin protein 22; GAS 3; HNPP; Sp110; PMP-22; growth arrest-specific 3; growth arrest-specific protein 3; DSS; CMT1A; CMT1E; GAS-3; HMSNIA; MGC20769; DSS, HNPP, CMT1A, CMT1E, GAS-3, Sp110, HMSNIA

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