基因名：
PMP22
产品别名：
CIDP； CMT1A； CMT1E； DSS； GAS-3； GAS3； HMSNIA； HNPP； Sp110； PMP22； peripheral myelin protein 22； peripheral myelin protein 22； peripheral myelin protein 22； Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia)； growth arrest-specific protein 3； peripheral myelin protein 22 kDa； 外周鞘磷脂蛋白22(PMP22)； 外周髓鞘蛋白-22；
背景信息：
PMP22 is a 22 kDa glycoprotein expressed in the compact myelin 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) 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.
