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Charcot-Marie-Tooth disease axonal type 2Q

Summary
Synonym
  • CMT2Q
  • Charcot-Marie-Tooth neuropathy type 2Q
  • autosomal dominant Charcot-Marie-Tooth disease type 2Q
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.
Super Class
Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
Disease Ontology
DOID:0110170
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 30 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
Displaying 1 entry
Gene ID Gene Symbol Description Source
209692 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
361272 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
43689 CG1544 uncharacterized protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
494076 dhtkd1 dehydrogenase E1 and transketolase domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
403360 dhtkd1.L dehydrogenase E1 and transketolase domain containing 1 L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
179674 ogdh-2 Transketolase-like pyrimidine-binding domain-containing protein;putative 2-oxoglutarate dehydrogenase E1 component DHKTD1 homolog, mitochondrial
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