GENETIC ENCYCLOPEDIA
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gene: MFN2

id9927
symbolMFN2
organismHomo sapiens
full namemitofusin 2
summaryThis gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
variant-disease

NM_014874.3(MFN2):c.751C>G (p.Pro251Ala) AND Charcot-Marie-Tooth disease, type 2A2A

NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) AND Hereditary motor and sensory neuropathy with optic atrophy

NM_014874.3(MFN2):c.1403G>A (p.Arg468His) AND Charcot-Marie-Tooth disease, type 2A2A

NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) AND Charcot-Marie-Tooth disease, type 2A2A

NM_014874.3(MFN2):c.1179G>A (p.Met393Ile) AND not specified

... 746 more


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