| Gene Symbol |
MFN2
|
| Gene Synonyms |
HSG MSL MARF CMT2A CPRP1 CMT2A2 HMSN6A CMT2A2A CMT2A2B |
| Gene Full Name |
mitofusin 2 |
| Gene Summary |
This 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] |
| Alternative Names |
CMT2A CMT2A2 CPRP 1 CPRP1 EC 3.6.5.- Fzo HSG hyperplasia suppressor gene Hypertension related protein 1 KIAA0214 MARF MFN 2 Mfn2 MFN2_HUMAN Mitochondrial assembly regulatory factor Mitofusin-2 Mitofusin2 Transmembrane GTPase MFN2 |
| Molecular Weight(MW) |
86 kDa |
| Cellular Localization |
Mitochondrion outer membrane. |