Myelinated neuron The condition is caused by a mutation in one copy of the gene PMP22 (peripheral myelin protein 22, located at locus 17p11.2). This makes it autosomal dominant. PMP22 is involved in maintaining the myelin sheath that surrounds nerves to facilitate conductivity. The mutation causes haploinsufficiency, where the activity of the normal gene is insufficient to compensate for the loss of function of the other gene. Genetics left The peripheral myelin protein 22 gene encodes a 22-kD protein that comprises 2 to 5% of peripheral nervous system myelin. Overlap with Charcot–Marie–Tooth disease type 1A has been found in Gly94fsX222 (c.281_282insG), due to point mutations in PMP22 that occur in a minority of cases of<unk> . The point mutations missense, nonsense and splice-site have each been alluded to in<unk> .
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