background:
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].
Subunit:
Forms homomultimers and heteromultimers with MFN1.
Subcellular Location:
Mitochondrion outer membrane; Multi-pass membrane protein.
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.
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.
Database links:
Entrez Gene: 9927 Human
Entrez Gene: 170731 Mouse
Entrez Gene: 64476 Rat
Omim: 608507 Human
SwissProt: O95140 Human
SwissProt: Q80U63 Mouse
SwissProt: Q8R500 Rat
Unigene: 376681 Human
Unigene: 154312 Mouse
Unigene: 437499 Mouse
Unigene: 8570 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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