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Charcot-Marie-Tooth disease axonal type 2S

Summary
Synonym
  • CMT2S
  • Charcot-Marie-Tooth disease type 2S
  • Charcot-Marie-Tooth neuropathy type 2S
  • autosomal recessive axonal Charcot-Marie-Tooth type 2S
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.
Super Class
Charcot-Marie-Tooth disease type 2 autosomal recessive disease
Disease Ontology
DOID:0110171
ORDO
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3508 IGHMBP2 immunoglobulin mu DNA binding protein 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P38935 DNA-binding protein SMUBP-2
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: April 7, 2025