Intracellular trafficking proteins involved in CMT neuropathy (Homo sapiens)

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Schwann CellMyelinEarlyendosomeLate endosome/LysosomeNeuronMyelinGenetic defects associated with different clinical forms of CMT disease Recycling endosomeNucleusDominant intermediate – DI-CMTAxonal autosomal dominant – AD CMT2Axonal autosomal recessive – AR CMT2Demyelinating autosomal dominant – AD CMT1Demyelinating autosomal recessive – AR CMT1 or CMT4NeurofilamentRAB11ANDRG1RAB4AEGR2PMP22SH3TC2LITAFMTMR2DNM2MPZRAB4BRAB11BLITAFRAB25SBF2FIG4MTMR2SynapticvesicleLate endosome/LysosomeLate endosome/LysosomeNeurofilamentKinesin+NEFLHSPB1RAB3AFGD4HSPB8GDAP1MFN2KIF1BLRSAM1FIG4RAB7AEarly endosomeRAB3B-+-MTMR2HSPB1SynapticvesicleRAB3ARAB3BDynein/DynactinDynein/DynactinMicrotubuleMicrotubuleSBF2SBF2RABAC1RABAC1


Description

draft

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Quality Tags

Ontology Terms

 

Bibliography

  1. Bucci C, Bakke O, Progida C; ''Charcot-Marie-Tooth disease and intracellular traffic.''; Prog Neurobiol, 2012 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
138701view19:42, 29 April 2025Khanspersimprove readability
137900view17:24, 10 March 2025KhanspersModified description
129467view02:01, 23 April 2024EweitzOntology Term : 'Schwann cell' added !
129466view02:00, 23 April 2024EweitzOntology Term : 'neuron' added !
113654view22:16, 9 November 2020Khanspersmoved legend
110863view03:06, 15 June 2020Khanspersadded lit ref
109774view16:27, 31 March 2020Khanspersfixed unconnected
109526view22:35, 20 March 2020KhanspersOntology Term : 'cellular trafficking cycle pathway' added !
109525view22:34, 20 March 2020KhanspersOntology Term : 'genetic disease' added !
109524view22:34, 20 March 2020KhanspersOntology Term : 'nervous system disease' added !
109523view22:33, 20 March 2020KhanspersOntology Term : 'Charcot-Marie-Tooth disease' added !
109522view22:33, 20 March 2020KhanspersModified description
109521view22:22, 20 March 2020KhanspersNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
DNM2GeneProductENSG00000079805 (Ensembl)
EGR2GeneProductENSG00000122877 (Ensembl)
FGD4GeneProductENSG00000139132 (Ensembl)
FIG4GeneProductENSG00000112367 (Ensembl)
GDAP1GeneProductENSG00000104381 (Ensembl)
HSPB1GeneProductENSG00000106211 (Ensembl)
HSPB8GeneProductENSG00000152137 (Ensembl)
KIF1BGeneProductENSG00000054523 (Ensembl)
LITAFGeneProductENSG00000189067 (Ensembl)
LRSAM1GeneProductENSG00000148356 (Ensembl)
MFN2GeneProductENSG00000116688 (Ensembl)
MPZGeneProductENSG00000158887 (Ensembl)
MTMR2GeneProductENSG00000087053 (Ensembl)
NDRG1GeneProductENSG00000104419 (Ensembl)
NEFLGeneProductENSG00000277586 (Ensembl)
PMP22GeneProductENSG00000109099 (Ensembl)
RAB11AGeneProductENSG00000103769 (Ensembl)
RAB11BGeneProductENSG00000185236 (Ensembl)
RAB25GeneProductENSG00000132698 (Ensembl)
RAB3AGeneProductENSG00000105649 (Ensembl)
RAB3BGeneProductENSG00000169213 (Ensembl)
RAB4AGeneProductENSG00000168118 (Ensembl)
RAB4BGeneProductENSG00000167578 (Ensembl)
RAB7AGeneProductENSG00000075785 (Ensembl)
RABAC1GeneProductENSG00000105404 (Ensembl)
SBF2GeneProductENSG00000133812 (Ensembl)
SH3TC2GeneProductENSG00000169247 (Ensembl)

Annotated Interactions

No annotated interactions

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