Disease:Defects in KIF1B are the cause of Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]. CMT2A1 is a form of Charcot-Marie-Tooth disease , the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1 , and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations , normal or slightly reduced nerve conduction velocities , and progressive distal muscle weakness and atrophy. ,Function:Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. ,similarity:Belongs to the kinesin-like protein family. ,similarity:Belongs to the kinesin-like protein family. Unc-104 subfamily. ,similarity:Contains 1 FHA domain. ,similarity:Contains 1 kinesin-motor domain. ,similarity:Contains 1 PH domain. ,subunit:Interacts with KBP. ,tissue specificity:Isoform 3 is abundant in the skeletal muscle. It is also expressed in fetal brain , lung and kidney , and adult heart , placenta , testis , ovary and small intestine. Isoform 2 is abundant in the brain and also expressed in fetal heart , lung , liver and kidney , and adult skeletal muscle , placenta , liver , kidney , heart , spleen , thymus , prostate , testis , ovary , small intestine , colon and pancreas. ,
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