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Symbol MFN2 contributors: mct/ - updated : 08-04-2016
HGNC name mitofusin 2
HGNC id 16877
corresponding disease(s) CMT2A2 , HMSN6
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
(transversion or transition) in some patients with Charcot-Marie-Tooth disease type 2A
constitutional     --other  
dysregulation of MFN2 expression in obesity or type 2 diabetes (collaboration with TNFalpha and interleukin-6 )
constitutional     --over  
by body weight loss in skeletal muscle of obese humans
constitutional     --low  
by type 2 diabetes in skeletal muscle
constitutional     --over  
drastically changes mitochondrial morphology, forming mitochondrial clusters and causes mitochondrial dysfunction and cell death
constitutional     --low  
found in Huntington disease patients relative to the controls
constitutional     --low  
loss of MFN2 might therefore be expected to increase the number of STIM1 multimers that successfully migrate to ER-PM junctions, resulting in increased Ca2+ entry
constitutional     --low  
in trophoblastic cells could be an important cause of early miscarriage
Variant & Polymorphism
Candidate gene
Therapy target
may serve as an accessible therapeutic target for the treatment of neuronal trauma and stroke
might be a novel therapeutic target in T cell apoptosis related disorders
  • Mfn-2-deficient mice display modest cardiac hypertrophy accompanied by slight functional deterioration
  • hearts from cardiac-specific MFN2 knock-out mice had abnormal mitochondrial and cellular metabolism and were vulnerable to ischemia-reperfusion challenge
  • Mfn2 mutants exhibit severe locomotive defects, which are preceded by the loss of dopaminergic efferents to the striatum, and importantly, these mice show dysfunction in the striatum and motor deficits weeks earlier than the loss of nigral neurons
  • ablation of mitochondrial fusion proteins Mfn1 and Mfn2 in the embryonic mouse heart arrested mouse heart development and impaired differentiation of ESCs into cardiomyocytes