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proteins. Page last changed on 19 Dec 2016.
Kinesin family member 1B
CMT2, KIF1B, CMT2A
This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008] (from
CMT1 is the autosomal-dominant demyelinating form, and CMT1A (mostly PMP22 duplication) is the most frequent subtype, followed by CMTX1, HNPP (hereditary neuropathy with liability to pressure palsies), CMT1B, or CMT2.
Chabrol et al., Marseille, France. In Brain Dev, Jan 2016
INTRODUCTION: The Mitofusin 2 gene (MFN2), which encodes a mitochondrial membrane protein, is known to be the first cause of autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2) with early onset.
Dallman et al., Miami, United States. In Nat Genet, Aug 2015
Dominant optic atrophy (DOA) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2) are hereditary neurodegenerative disorders most commonly caused by mutations in the canonical mitochondrial fusion genes OPA1 and MFN2, respectively.
Paquis-Flucklinger et al., Nice, France. In Embo Mol Med, 2014
CHCHD10-related diseases include mitochondrial DNA instability disorder, frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) clinical spectrum, late-onset spinal motor neuropathy (SMAJ), and Charcot-Marie-Tooth disease type 2 (CMT2).
Hershko et al., Haifa, Israel. In Proc Natl Acad Sci U S A, 2012
The binding of p31(comet) to Mad2 in mitotic checkpoint complex may trigger a conformational change in Cdc20 that facilitates its phosphorylation by Cdk, and that the latter process may promote its dissociation from BubR1.
Hintzen et al., Rotterdam, Netherlands. In Nat Genet, 2008
Study reports a genome wide association study identifying a new locus replicated in 2,679 cases and 3,125 controls; an rs10492972[C] variant located in the KIF1B gene was associated with MS with an odds ratio of 1.35 (P = 2.5 x 10(-10)).