MFN2

Mitofusin 2
Identifiers
Symbols MFN2; CMT2A; CMT2A2; CPRP1; HSG; KIAA0214; MARF
External IDs OMIM: 608507 MGI: 2442230 HomoloGene: 8915 GeneCards: MFN2 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 9927 170731
Ensembl ENSG00000116688 ENSMUSG00000029020
UniProt O95140 Q3TEX7
RefSeq (mRNA) NM_001127660.1 NM_133201.2
RefSeq (protein) NP_001121132.1 NP_573464.2
Location (UCSC) Chr 1:
12.04 – 12.07 Mb		 Chr 4:
147.25 – 147.28 Mb
PubMed search [1] [2]

Mitofusin-2 is a protein that in humans is encoded by the MFN2 gene.[1][2]

Contents

Function

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.[3]

Clinical significance

Mutations of the gene are implicated in Charcot-Marie-Tooth disease. Charcot-Marie-Tooth disease type 2A (CMT2A) is caused by a mutation in the MFN2 gene. The mutations affect the transport function of mitochondria in the nerve's axon. While the symptoms of CMT2A are variable they are characterized by a sometimes early onset, severe phenotype, and optic atrophy.[4]

The MFN2 protein may play a role in the pathophysiology of obesity.[5]

References

  1. ^ Karbowski M, Lee YJ, Gaume B, Jeong SY, Frank S, Nechushtan A, Santel A, Fuller M, Smith CL, Youle RJ (Dec 2002). "Spatial and temporal association of Bax with mitochondrial fission sites, Drp1, and Mfn2 during apoptosis". J Cell Biol 159 (6): 931–8. doi:10.1083/jcb.200209124. PMC 2173996. PMID 12499352. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2173996. 
  2. ^ Santel A, Fuller MT (Feb 2001). "Control of mitochondrial morphology by a human mitofusin". J Cell Sci 114 (Pt 5): 867–74. PMID 11181170. 
  3. ^ "Entrez Gene: MFN2 mitofusin 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9927. 
  4. ^ Cartoni R, Martinou JC (August 2009). "Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A". Exp. Neurol. 218 (2): 268–73. doi:10.1016/j.expneurol.2009.05.003. PMID 19427854. 
  5. ^ Zorzano A, Sebastián D, Segalés J, Palacín M (September 2009). "The molecular machinery of mitochondrial fusion and fission: An opportunity for drug discovery?". Curr Opin Drug Discov Devel 12 (5): 597–606. PMID 19736619. 

Further reading

  • Zorzano A, Bach D, Pich S, Palacín M (2004). "[Role of novel mitochondrial proteins in energy balance]". Revista de medicina de la Universidad de Navarra 48 (2): 30–5. PMID 15382611. 
  • Pawlikowska P, Orzechowski A (2007). "[Role of transmembrane GTPases in mitochondrial morphology and activity]". Postepy Biochem. 53 (1): 53–9. PMID 17718388. 

External links