transmembrane GTPase MFN2l mitofusin-2 (MFN2, CPRP1, KIAA0214)

Function

• transmembrane GTPase
• mediates mitochondrial fusion
• acts independently of the cytoskeleton
• role in mitochondrial metabolism, obesity
• colocalizes with BAX during apoptosis
• overexpression induces formation of mitochondrial networks
• regulation of vascular smooth muscle cell proliferation

Compartment

mitochondrial outer membrane

Expression

• ubiquitous expression at low level
• highly expressed in heart, kidney

Pathology

• defects in MFN2 are the cause of
  • Charcot-Marie-Tooth disease type 2A-2
  • Charcot-Marie-Tooth disease type 6

More general terms

• transmembrane 2 protein
• mitochondrial membrane protein
• guanosine triphosphatase (GTPase)

Additional terms

• Charcot-Marie-Tooth disease type 2A2

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=9927
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:9927
• OMIM: https://mirror.omim.org/entry/601152
• OMIM: https://mirror.omim.org/entry/608507
• OMIM: https://mirror.omim.org/entry/609260
• UniProt: http://www.uniprot.org/uniprot/O95140.html