Intracellular trafficking proteins involved in CMT neuropathy (Homo sapiens)

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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.