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Gene

PMP22

peripheral myelin protein 22

Summary

Cytogenetic location
17p12
Coordinates
Chromosome 17: 15,229,779–15,265,326 (GRCh38)
Exons
5 exons across 35.5 kb
Protein
160 amino acids
Inheritance
Autosomal dominant
Also known as
HNPP, GAS3, Sp110, HMSNIA
Previous symbols
CMT1A
MANE Select transcript
ENST00000312280.9NM_000304.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)

    • Hereditary Neuropathy with Liability to Pressure PalsiesAutosomal dominant

      A peripheral neuropathy caused by loss of one copy of PMP22, leading to recurrent pressure-related nerve palsies such as foot drop or carpal tunnel symptoms.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Avoiding prolonged pressure on nerves, rapid weight loss and vincristine chemotherapy; supportive care such as splints during episodes.

Broader groupings

  • Charcot-Marie-Tooth Disease

    • One of 62 genes linked to it

      A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How PMP22 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where PMP22 sits. PMP22 and 10 genes near it on chromosome 17, from 14,747,553 to 15,747,552.Chromosome 1717p12p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.314.8 Mb15 Mb15.2 Mb15.4 Mb15.6 MbPMP22: 15,229,779–15,265,326, reverse strandPMP22TEKT3: 15,303,811–15,341,632, reverse strandTEKT3CDRT4: 15,433,937–15,475,733, reverse strandCDRT4TVP23C-CDRT4: 15,436,021–15,563,561, reverse strandTVP23C-CDRT4TVP23C: 15,502,264–15,563,595, reverse strandTVP23CFBXW10B: 15,565,484–15,619,704, reverse strandFBXW10B: 15,571,491–15,651,653, reverse strandTRIM16: 15,627,950–15,684,311, reverse strandTRIM16ZNF286A-TBC1D26: 15,699,552–15,745,940, forward strandZNF286A-TBC1D26ZNF286A: 15,699,577–15,720,787, forward strandZNF286ATBC1D26: 15,732,247–15,746,162, forward strandTBC1D26Diagram of PMP22: 5 exons on the reverse strand of chromosome 17Exon 5: 19 known disease-causing sitesExon 4: 25 known disease-causing sitesExon 3: 7 known disease-causing sitesExon 2: 8 known disease-causing sitesExon 5: 15,229,779–15,231,080, 1,302 basesExon 4: 15,239,471–15,239,611, 141 basesExon 3: 15,259,094–15,259,193, 100 basesExon 2: 15,260,650–15,260,761, 112 basesExon 1: 15,265,154–15,265,326, 173 bases543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.8 kb of the gene's 35.5 kb; 483 of those bases code for the protein.

How a genome test reads PMP22

67

positions in PMP22 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 35.5 kb of PMP22, introns included, not only the 1.8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PMP22 gene: peripheral myelin protein 22. Retrieved 17 October 2026, from https://dantelabs.com/genes/pmp22

Vancouver

Dante Labs. PMP22 gene: peripheral myelin protein 22 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pmp22

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