PMP22

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PMP22

A gene on chromosome 17p12 that encodes an integral membrane protein which is a major component of myelin in the peripheral nervous system, and appears to be involved in growth regulation and myelinisation of the peripheral nervous system.

Molecular pathology
PMP22 mutations are linked to Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome and hereditary neuropathy with liability to pressure palsies.