Reactivities: | Human |
Presku: | AAP63220 |
Size: | 100ug |
Weight: | 18kDa |
Gene: | 5376 |
Format: | Lyophilized powder |
Target: | This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing of this gene results in three transcript variants that encode the same protein. |
Alternative names: | CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP; MGC20769; Sp110 |