Intracellular trafficking proteins involved in CMT neuropathy (Homo sapiens)

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NeuronSchwann CellMyelinEarlyendosomeLate endosome/LysosomeMyelinGenetic defects associated with different clinical forms of CMT disease Recycling endosomeNucleusDemyelinating autosomal dominant – AD CMT1Dominant intermediate – DI-CMTAxonal autosomal recessive – AR CMT2Demyelinating autosomal recessive – AR CMT1 or CMT4Axonal autosomal dominant – AD CMT2NeurofilamentRAB11ANDRG1RAB4AEGR2PMP22SH3TC2LITAFMTMR2DNM2MPZRAB4BRAB11BLITAFRAB25SBF2FIG4MTMR2SynapticvesicleLate endosome/LysosomeLate endosome/LysosomeNeurofilamentKinesin+NEFLHSPB1RAB3AFGD4HSPB8GDAP1MFN2KIF1BLRSAM1FIG4RAB7AEarly endosomeRAB3B-+-MTMR2HSPB1SynapticvesicleRAB3ARAB3BDynein/DynactinDynein/DynactinMicrotubuleMicrotubuleSBF2SBF2RABAC1RABAC1


Charcot-Marie-Tooth (CMT) disease is one of the most common inherited peripheral neuropathies. This peripheral neuropathy is highly heterogeneous (clinically and genetically) and is characterized by a slowly progressive degeneration of the muscle of the foot, lower leg, hand and forearm, accompanied by sensory loss in the toes, fingers and limbs. Mutations in genes involved in intracellular trafficking are increasingly being implicated in various human diseases, including neuronal diseases. This pathway highlights genes with known mutations in CMTs relevant to intracellular trafficking.

DNM2 regulates vesicle budding. KIF1B controls vesicle motility on microtubules. LITAF and LRSAM are present in the endocytic pathway and probably regulate protein degradation. Myotubularin-related proteins (MTMR2 and MTMR13) and FIG4 regulate PI metabolism at the level of early endosomes and late endosomes, respectively. Rab7 is present on late endosomes and regulates transport to lysosomes. SH3TC2 regulates endosomal recycling together with Rab11, while NDRG1 regulates membrane traffic at the level of early endosomes together with Rab4 and PRA1. HSPs regulate proteasomal degradation and associate with neurofilaments and actin filaments. FGD4 associates with and regulates actin filaments. MFN2 and GDAP regulate mitochondrial dynamics and mitochondrial axonal transport.

This pathway is based on figure 4 and table 1 from Bucci et al. Description adapted from the figure legend and abstract.

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Ontology Terms



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


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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


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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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