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MFN2

From SNPedia

is agene
is mentioned by
Full namemitofusin 2
EntrezGene9927
PheGenI9927
VariationViewer9927
ClinVarMFN2
GeneCardsMFN2
dbSNP9927
SADR9927
HugeNav9927
wikipediaMFN2
googleMFN2
gopubmedMFN2
EVSMFN2
HEFalMpMFN2
MyGene2MFN2
23andMeMFN2
UniProtO95140
EnsemblENSG00000116688
OMIM608507
# SNPs45
 Max MagnitudeChromosome positionSummary
rs111723244012,004,615
rs119103261012,002,014
rs119103262011,997,315
rs119103263011,992,659
rs119103264012,001,411
rs119103265012,002,033
rs119103266011,998,787
rs119103267012,009,641
rs119103268011,992,689
rs12069578012,004,010
rs138382758012,004,835
rs140234726011,999,028
rs147136530012,001,426
rs147486811,984,107
rs223605511,982,204
rs233638411,986,006
rs28940291011,992,660
rs28940292012,011,510
rs28940293011,992,606
rs28940294012,001,423
rs28940295011,999,030
rs28940296011,992,584
rs369762154012,007,167
rs387906990011,998,817
rs387906991012,002,028
rs424089711,982,698
rs484608511,990,577
rs587777875011,999,054
rs763492075012,007,126
rs773159585011,998,877
rs794729198011,999,025
rs863224064011,997,363
rs863224065011,999,004
rs863224066012,001,482
rs863224068011,992,690
rs863224069011,996,158
rs863224967012,002,069
rs863224968012,011,547
rs863224969011,996,280
rs863224970011,997,316
rs864622480011,998,999
rs87345711,986,277
rs87345811,986,032
rs879253777011,999,009

[PMID 20525039] Charcot Marie Tooth Disease type 2A can be caused by mutations in mitofusin 2 (MFN2), which encodes for a mitochondrial membrane protein involved in mitochondrial fusion. Other subgroups of CMT, including CMT with optic atrophy, pyrimidal tract disease, or cerebral white matter disease, can also be caused by mutations in MFN2