Charcot-Marie-Tooth disease axonal type 2L

Summary
Synonym
  • CMT2L
  • Charcot-Marie-Tooth neuropathy axonal type 2L
  • autosomal dominant Charcot-Marie-Tooth disease type 2L
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2L
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene.
Super Class
Charcot-Marie-Tooth disease type 2 autosomal dominant disease
Disease Ontology
DOID:0110174
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
26353 HSPB8 heat shock protein family B (small) member 8
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9UJY1 Heat shock protein beta-8

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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: April 6, 2026