PMP22 wt Allele
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PMP22 wt Allele Definition
Human PMP22 wild-type allele is located within 17p12-p11.2 and is approximately 36 kb in length. This allele, which encodes peripheral myelin protein 22, plays a role in the modulation of the structure of myelin. Mutation of the gene is associated with Charcot-Marie-Tooth disease Types IA and IE, Dejerine-Sottas syndrome, inflammatory demyelinating polyneuropathy and hereditary neuropathy with liability to pressure palsies.
PMP22 wt Allele Synonyms
PMP22 wt Allele, CMT1A, CMT1E, DSS, GAS-3, HMSNIA, HNPP, MGC20769, Peripheral Myelin Protein 22 wt Allele, Sp110
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