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)
MFN2 (NP_055689, 661 a.a. ~ 757 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Mitofusin 2 (MFN2) plays an essential role in mitochondrial metabolism via maintenance and operation of the mitochondrial network architecture through fusion of mitochondria. Decreased expression of MFN2 leads to metabolic abnormalities, which further increases the risk of developing obesity and type 2 diabetes. Mutation of the gene results in Charcot–Marie–Tooth neuropathy type 2A (CMT2A). Mfn2 controls various cellular function including cell proliferation, oxidative metabolism, autophagy, and mitochondrial antiviral signaling protein. MFN2 integrates mitochondria and endoplasmic reticulum function, which is required for regulation of insulin signaling and glucose homeostasis in vivo. Repressed expression of MFN2 in placenta is associated with pathogenesis of preeclampsia (PE). MFN2 functions as a biomarker and therapeutic target for PE and cardiovascular diseases, such as hypertension.
Solution in phosphate buffered saline, pH 7.4
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