Description
Mitofusin-2 is a protein that in humans is encoded by the MFN2 gene. It is mapped to chromosome 1 and encodes a 757-amino acid protein that contains an ATP/GTP-binding site motif. This gene is expressed in many tissues and cell lines such as brain and KG-1 with the highest expression in heart and skeletal muscle. It has been found that MFN2 triggers mitochondrial energization, at least in part, by regulating OXPHOS expression through signals that are independent of its role as a mitochondrial fusion protein. And it contributes to the maintenance and operation of the mitochondrial network. Axonal CMT type 2A and autosomal dominant HMSN VI are caused by MFN2 and mutations of, which emphasizes its important role of mitochondrial function for both optic atrophies and peripheral neuropathies