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Symbol PMP22 contributors: shn - updated : 27-10-2016
HGNC name peripheral myelin protein 22
HGNC id 9118
  • PMP22-transgenic rats, overexpressing pmp22 gene, develop gait abnormalities caused by a peripheral hypomyelination, Schwann cell hypertrophy (onion bulb formation), and muscle weakness (
  • PMP22 duplication in Schwann cells results in an impairment in the normal axonal cytoskeletal organization, resulting in distal axonal degeneration and fiber loss, and the affect of PMP22 deletion on axonal cytoskeleton is less deleterious (
  • PMP22, when overexpressed, accumulates in a late Golgi-cell membrane compartment and uncouples myelin assembly from the underlying program of Schwann cell differentiation (
  • Histological analysis of both mouse lines, harbouring H12R or Y153TER mutation, revealed hypo-myelination of peripheral nerves (