Charcot-Marie-Tooth disease axonal type 2F

Summary
Synonym
  • CMT2F
  • Charcot-Marie-Tooth neuronal type 2F
  • Charcot-Marie-Tooth neuropathy type 2F
  • autosomal dominant Charcot-Marie-Tooth disease type 2F
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1).
Super Class
Charcot-Marie-Tooth disease type 2 autosomal dominant disease
Disease Ontology
DOID:0110163
ORDO
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3315 HSPB1 heat shock protein family B (small) member 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P04792 Heat shock protein beta-1

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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: August 4, 2025