PMP22 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - CMT1A - CMT1E - DSS - GAS-3 - HMSNIA - HNPP - MGC20769 - Peripheral Myelin Protein 22 wt Allele - Sp110