peripheral myelin protein 22

Summary
Gene Symbol
  • Pmp22
Organism
Mus musculus (house mouse)
NCBI Gene
18858
PubChem
18858
Alliance of Genome Resources
Annotation
Keyword
  • Cell membrane
  • Disease variant
  • Glycoprotein
  • Growth arrest
  • Reference proteome
  • Transmembrane helix
  • Ubl conjugation
Proteins
Displaying all 2 entries
UniProt Protein Name
Q5SXS3
P16646
  • Growth arrest-specific protein 3
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Peripheral myelin protein 22
Functional Category
  • L: Replication, recombination and repair
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Displaying 1 entry
Gene Ontology
myelin assembly
Displaying all 2 entries
InterPro
PMP-22/EMP/MP20/Claudin
PMP-22/EMP/MP20
Disease
Disease Ontology
Displaying all 4 entries
DO ID Disease Name Source
DOID:0050540 Charcot-Marie-Tooth disease type 3
DOID:0060843 hereditary neuropathy with liability to pressure palsies
DOID:0110148 Charcot-Marie-Tooth disease type 1A
DOID:0110153 Charcot-Marie-Tooth disease type 1E

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025