Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
PMP22
Peripheral myelin protein 22




17p12-p11.2
* Charcot-Marie-Tooth disease, type 1A - CMT1A (14.1, 14.5, 14.6, 14.36)
* Charcot-Marie-Tooth disease, type 1E - CMT1E (14.1, 14.5, 14.6, 14.36)
* Dejerine-Sottas Syndrome - DSSB (14.1, 14.5, 14.6, 14.36)
* Neuropathy, recurrent, with pressure palsies - HNPP (14.1, 14.5, 14.6, 14.36)