ConductScience.org, home

Gene · 5376

PMP22: peripheral myelin protein 22

12 sourcesgene-search-2026-11-11-0.2.0

Download JSON
Cite this record

ConductScience Library. PMP22: peripheral myelin protein 22. Genes, record 5376. Release gene-search-2026-11-11-0.2.0, 11 Nov 2026. https://conductscience.org/library/genes/5376

On this page

Gene

Symbol
PMP22
HGNC
Name
peripheral myelin protein 22
HGNC
NCBI Gene ID
5376
NCBI Gene
HGNC ID
HGNC:9118
HGNC
Ensembl
ENSG00000109099
NCBI Gene
Aliases
CIDP, CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110
NCBI Gene
Type
protein-coding
NCBI Gene

Proteins1

Reviewed human proteins whose Swiss-Prot entry states the gene.

UniProt entryProteinLengthStructuresGene stated in
Q01453Peripheral myelin protein 221600Ensembl, GeneID, HGNC

Source UniProt

Patents69

Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.

PublicationPublishedSEQ ID NOProteinSource
JP 2026004568 A2026-01-1457370Q01453Espacenet
JP 2026004568 A2026-01-1457372Q01453Espacenet
EP 4650780 A22025-11-194587Q01453Espacenet
JP 2025531671 A2025-09-255Q01453Espacenet
JP 2025529142 A2025-09-043547Q01453Espacenet
JP 2025113267 A2025-08-0110Q01453Espacenet
US 12371689 B22025-07-293547Q01453Espacenet
EP 4572801 A12025-06-2560Q01453Espacenet
EP 4572802 A12025-06-2560Q01453Espacenet
EP 4572803 A12025-06-2560Q01453Espacenet

1 to 10 of 69

See all 69 patents

Drugs0

Drugs a ChEMBL mechanism record says act on the gene's protein, through Open Targets.

None in this release.

Trials0

Trials of those drugs. A trial joins the gene only through a drug that acts on it.

None in this release.

NIH grants1,361

NIH grants whose papers are about the gene, through NIH's grant-paper links.

GrantTitlePMP22 papersNewest fiscal year
R01NS095989Folding, Misfolding, and Function of PMP22142025
R35NS105078STRUCTURAL VARIATION IN NEUROLOGICAL DISEASE112025
P30CA008748Cancer Center Support Grant102025
R01HL122010Decrypting Variants of Uncertain Significance in Long-QT Syndrome102025
P30CA016042Cancer Center Support Grant92025
P30CA068485Cancer Center Support Grant72025
P30DK058404Molecular and Cellular Basis for Digestive Diseases62025
T32GM007526Medical Genetics Research Fellowship Program62025
ZIANS003129Molecular and Clinical Manifestations of Matrix and Aggregate Myopathies62025
P30EY008126Core Grant in Vision Research52025

1 to 10 of 1,361Source NIH's project files

See all 1,361 nih grants

Papers3,310

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
Cardiovascular Autonomic Neuropathy in Charcot-Marie-Tooth Disease: A Genotype-Stratified Study of PMP22 Duplication and GJB1 Mutation Carriers.J Peripher Nerv Syst202642802036PubTator, text miningPubMed
Promoter-Targeted CRISPR Correction of PMP22 Gene Dosage Restores Schwann Cell Homeostasis in Charcot-Marie-Tooth Disease Type 1A.Tissue Eng Regen Med202642801440PubTator, text miningPubMed
Late-onset CMT neuropathy in the NGS era: a 10-year retrospective study.J Neurol202642799779PubTator, text miningPubMed
Bioactive keratin-pectin methacrylate multifilament nerve conduits for functional regeneration across segmental nerve defects.Int J Biol Macromol202642748994PubTator, text miningPubMed
Corneal Confocal Microscopy in Hereditary Demyelinating Neuropathies: Small Fiber Involvement in Charcot-Marie-Tooth Disease.Muscle Nerve202642736606PubTator, text miningPubMed
A phase III clinical trial of PXT3003 in Chinese patients with Charcot-Marie-Tooth disease type 1A.iScience202642699772PubTator, text miningPubMed
PMP22 gene diagnostic testing in Southwest Finland in 2005-2020. An observational, register-based study.Neurogenetics202642671656PubTator, text miningPubMed
Unrecognized Charcot-Marie-Tooth Disease Unmasked by Chemotherapy-Induced Neurotoxicity.Cureus202642668975PubTator, text miningPubMed
When childbirth triggers a hidden neuropathy: hereditary neuropathy with liability to pressure palsies revealed by postpartum paralysis.Obstet Med202642630357PubTator, text miningPubMed
Delayed Genetic Diagnosis of a Rare Presentation of Overlapping Peripheral Myelin Protein 22 (PMP22) Neuropathies.Cureus202642603063PubTator, text miningPubMed

1 to 10 of 3,310

See all 3,310 papers

Sources 12

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
  • GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
  • HGNCCC0
  • NCBI GenePublic domain (US government)
  • NIH's project files and grant-paper linksPublic domain
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
  • GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
  • HGNCCC0: https://www.genenames.org/about/license/
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this gene from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/genes/v1/5376

GET https://conductscience.org/api/genes/v1/5376/patents?page=2