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Comments and Description Text from UniProtKB
ID:MFN2_HUMAN DESCRIPTION: RecName: Full=Mitofusin-2; EC=3.6.5.-; AltName: Full=Transmembrane GTPase MFN2; 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. CATALYTIC ACTIVITY: GTP + H(2)O = GDP + phosphate. SUBUNIT: Forms homomultimers and heteromultimers with MFN1. Oligomerization, which is mediated by the second coiled coil region, may play an essential role in mitochondrion fusion. Interacts with VAT1 (By similarity). SUBCELLULAR LOCATION: Mitochondrion outer membrane; Multi-pass membrane protein. Note=Colocalizes with BAX during apoptosis. TISSUE SPECIFICITY: Ubiquitous; expressed at low level. Highly expressed in heart and kidney. 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. SIMILARITY: Belongs to the mitofusin family. SEQUENCE CAUTION: Sequence=BAA34389.2; Type=Erroneous initiation; Sequence=CAB70866.2; Type=Frameshift; Positions=581; WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db; URL="http://www.molgen.ua.ac.be/CMTMutations/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MFN2";
Protein Domain and Structure Information
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Other Names for This Gene
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Methods, Credits, and Use Restrictions
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