Dynamin-like 120 kDa protein

Dynamin-like 120 kDa protein, also known as Mitofusin 2 or MFN2, is a protein that in humans is encoded by the MFN2 gene. It is a member of the dynamin superfamily of GTPases.

Function

Mitofusin 2 is 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 have been associated with Charcot-Marie-Tooth disease type 2A2 and hereditary motor and sensory neuropathy VI.

Clinical significance

Mutations in the MFN2 gene are associated with Charcot-Marie-Tooth disease type 2A2 and hereditary motor and sensory neuropathy VI. These mutations often result in a loss of function of the protein, leading to mitochondrial dysfunction and cell death. This can lead to a variety of symptoms, including muscle weakness, sensory loss, and balance issues.

See also

• Mitochondrial dynamics
• Charcot-Marie-Tooth disease
• Mitochondrial disease

External links

• Dynamin-like 120 kDa protein at WikiMD