Mitofusin 2 (MFN2)

CMT2A; CMT2A2; CPRP1; HSG; MARF; Transmembrane GTPase MFN2

SPN	R203
HGNC	16877
MGI	2442230
PubMed	16714318
RGD	628843
UniProt	O95140
Wiki	MFN2

Mitofusin-2 is 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.

Reference

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J. Biol. Chem. 278:17190-17197(2003) [PubMed] [Europe PMC] [Abstract]

"Dysregulation of HSG triggers vascular proliferative disorders."
Nat. Cell Biol. 6:872-883(2004) [PubMed] [Europe PMC] [Abstract]

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Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

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Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

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Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"The full-ORF clone resource of the German cDNA consortium."
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]

"Control of mitochondrial morphology by a human mitofusin."
J. Cell Sci. 114:867-874(2001) [PubMed] [Europe PMC] [Abstract]

"Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo."
J. Cell Sci. 115:1663-1674(2002) [PubMed] [Europe PMC] [Abstract]

"Spatial and temporal association of Bax with mitochondrial fission sites, Drp1, and Mfn2 during apoptosis."
J. Cell Biol. 159:931-938(2002) [PubMed] [Europe PMC] [Abstract]

"Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells."
J. Cell Sci. 116:2763-2774(2003) [PubMed] [Europe PMC] [Abstract]

"Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A."
Nat. Genet. 36:449-451(2004) [PubMed] [Europe PMC] [Abstract]

Erratum
Nat. Genet. 36:660-660(2004)

"Identification of a novel mitochondrial complex containing mitofusin 2 and stomatin-like protein 2."
J. Biol. Chem. 282:5670-5681(2007) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"MiD49 and MiD51 can act independently of Mff and Fis1 in Drp1 recruitment and are specific for mitochondrial fission."
J. Biol. Chem. 288:27584-27593(2013) [PubMed] [Europe PMC] [Abstract]

"PINK1-phosphorylated mitofusin 2 is a Parkin receptor for culling damaged mitochondria."
Science 340:471-475(2013) [PubMed] [Europe PMC] [Abstract]

"Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A."
Hum. Genet. 116:23-27(2005) [PubMed] [Europe PMC] [Abstract]

"Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2."
Ann. Neurol. 59:276-281(2006) [PubMed] [Europe PMC] [Abstract]

"The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan."
PLoS ONE 6:E29393-E29393(2011) [PubMed] [Europe PMC] [Abstract]

"Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges."
J. Neurol. 261:970-982(2014) [PubMed] [Europe PMC] [Abstract]