Mfn2 Polyclonal Antibody

catalytic activity:GTP + H(2)O = GDP + phosphate.,disease:Defects in MFN2 are the cause of Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]. CMT2A2 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.,disease:Defects in MFN2 are the cause of Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]; also referred to as autosomal dominant hereditary motor and sensory neuropathy VI (HMSN6). CMT6 is an autosomal dominant form of axonal CMT associated with optic atrophy.,function:Essential transmembrane GTPase, which mediates mitochondrial fusion. Fusion of mitochondria occurs in many cell types and constitutes an important step in mitochondria morphology, which is balanced between fusion and fission. MFN2 acts independently of the cytoskeleton. It therefore plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes. Overexpression induces the formation of mitochondrial networks. Plays an important role in the regulation of vascular smooth muscle cell proliferation.,similarity:Belongs to the mitofusin family.,subcellular location:Colocalizes with BAX during apoptosis.,subunit:Forms homomultimers and heteromultimers with MFN2. Oligomerization, which is probably mediated by the coiled coil region, may play an essential role in mitochondrion fusion.,tissue specificity:Ubiquitous; expressed at low level. Highly expressed in heart and kidney.,