x

Search for a gene

* (*) mandatory field

PMP22 - peripheral myelin protein 22

  • Synonym(s) : GAS3, HMSNIA, HNPP, Sp110
  • Previous symbols and names : 'Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia)', CMT1A
  • Type : gene with protein product
  • Chromosomal location : 17p12
  • OMIM: 601097
  • HGNC: 9118
  • UniProtKB: Q01453
  • Genatlas: PMP22
  • GenCC: PMP22
  • Ensembl: ENSG00000109099
  • IUPHAR-DB: -
  • Reactome: Q01453
  • LOVD: PMP22

Diseases list

  : Assessed

Additional information

Patient-centred resources for this gene

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.