Definition:Mitofusin 2
Official Symbol:MFN2
Chromosome:1
Gene Size: 33197 bp (11962956..11996152)
No Exons:19
Location : 1p36.22
Description:This gene codes for a protein called mitofusin 2,This protein helps to determine the shape and structure of mitochondria during fission and fusion,This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity
Disease :
Mutations in MFN2 gene cause disease like Charcot-Marie-Tooth disease (CMT disease)and Hereditary motor and sensory neuropathy VI,
In Charcot-Marie-Tooth disease Researchers have identified more than 30 MFN2 mutations,Almost all these mutations replace one of the protein building blocks in mitofusin 2 with an incorrect amino acid,As a result the mitofusin 2 protein are altered in critical region and cannot function properly,
Recent research showed that the mutated MFN2 causes mitochondria to form large clusters. In nerve cells these large clusters of mitochondria failed to travel down the axon towards the synapses. It is suggested these mitochondria clots make the synapses fail, resulting in CMT disease
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