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MFN2 gene
URL of this page: https://medlineplus.gov/genetics/gene/mfn2/

MFN2 gene

mitofusin 2

Normal Function

The MFN2 gene provides instructions for making a protein called mitofusin 2. This protein helps determine the shape and structure (morphology) of mitochondria, the energy-producing centers within cells. Mitofusin 2 is found in many types of cells and tissues, including muscles and the spinal cord. This protein is also found in the nerves that connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, and heat (peripheral nerves).

Within cells, mitofusin 2 is found in the outer membrane that surrounds mitochondria. Mitochondria undergo changes in morphology through processes called fission (splitting into smaller pieces) and fusion (combining pieces). These changes in morphology are necessary for mitochondria to function properly. Mitofusin 2 helps regulate the morphology of mitochondria by controlling the fusion process.

Health Conditions Related to Genetic Changes

Charcot-Marie-Tooth disease

Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the MFN2 gene have been found to cause a neurological condition called Charcot-Marie-Tooth disease. This condition damages the peripheral nerves, which results in muscle weakness and the loss of sensation in the hands and feet. Pathogenic variants in the MFN2 gene cause a form of Charcot-Marie-Tooth disease known as type 2A (CMT2A). CMT2A is characterized by particularly severe symptoms that begin before age 10 and include impaired vision. Vision loss is caused by the breakdown of the nerves that carry information from the eyes to the brain (optic atrophy).

Most of the pathogenic variants in the MFN2 gene that cause Charcot-Marie-Tooth disease lead to the substitution of a single protein building block (amino acid) for another in mitofusin 2. The altered mitofusin 2 proteins do not function normally.

It is unclear how pathogenic variants in the MFN2 gene lead to the nerve problems that are characteristic of CMT2A. It may be that different gene variants affect protein function differently. Researchers suggest that mitochondria cannot fuse properly or move normally within the cell without functional mitofusin 2, which may disrupt the cell's energy supply and lead to the muscle and sensory problems seen in people with Charcot-Marie-Tooth disease.

More About This Health Condition

Other Names for This Gene

  • CMT2A2
  • CPRP1
  • KIAA0214
  • MARF

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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