Charcot-Marie-Tooth disease axonal type 2U

Summary
Synonym
  • CMT2U
  • Charcot-Marie-Tooth neuropathy type 2U
  • autosomal dominant Charcot-Marie-Tooth disease type 2U
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2U
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13.
Super Class
Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
Disease Ontology
DOID:0110173
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying entries 1 - 10 of 29 in total
Gene ID Gene Symbol Description Source
410 ARSA arylsulfatase A
821 CANX calnexin
847 CAT catalase
960 CD44 CD44 molecule (IN blood group)
1636 ACE angiotensin I converting enzyme
2629 GBA1 glucosylceramidase beta 1
2877 GPX2 glutathione peroxidase 2
3032 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
3098 HK1 hexokinase 1
3931 LCAT lecithin-cholesterol acyltransferase
Related Glycoprotein
Displaying entry 21 - 21 of 21 in total
UniProt ID Protein Name Source
Q9Y286 Sialic acid-binding Ig-like lectin 7

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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 19, 2024