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MFN2

MFN2

Reviewed January 2010

What is the official name of the MFN2 gene?

The official name of this gene is “mitofusin 2.”

MFN2 is the gene's official symbol. The MFN2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the MFN2 gene?

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 made in many types of cells and tissues, including muscles, the spinal cord, and nerves that connect the brain and spinal cord to muscles (peripheral nerves). Within cells, mitofusin 2 is found in the outer membrane that surrounds mitochondria.

Mitochondria are dynamic structures that 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 to regulate the morphology of mitochondria by controlling the fusion process.

How are changes in the MFN2 gene related to health conditions?

Charcot-Marie-Tooth disease - caused by mutations in the MFN2 gene

Researchers have identified approximately 50 MFN2 gene mutations that cause a form of Charcot-Marie-Tooth disease known as type 2A. Almost all of these mutations change single protein building blocks (amino acids) in mitofusin 2. These genetic changes alter a critical region in mitofusin 2, and the protein cannot function properly. A few mutations create a premature stop signal in the instructions for making mitofusin 2. As a result, no protein is produced, or an abnormally small protein is made.

Several MFN2 gene mutations cause a variant of type 2A Charcot-Marie-Tooth disease that affects vision. (This variant is also called hereditary motor and sensory neuropathy VI.) Vision loss is caused by the degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). People with this variant usually experience severe symptoms of Charcot-Marie-Tooth disease that begin before age 10.

It is unclear how MFN2 gene mutations lead to the nerve problems characteristic of type 2A Charcot-Marie-Tooth disease. 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. Nerve cells may be particularly sensitive to an interrupted supply of energy.

Where is the MFN2 gene located?

Cytogenetic Location: 1p36.22

Molecular Location on chromosome 1: base pairs 11,980,180 to 12,013,514

The MFN2 gene is located on the short (p) arm of chromosome 1 at position 36.22.

The MFN2 gene is located on the short (p) arm of chromosome 1 at position 36.22.

More precisely, the MFN2 gene is located from base pair 11,980,180 to base pair 12,013,514 on chromosome 1.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about MFN2?

You and your healthcare professional may find the following resources about MFN2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the MFN2 gene or gene products?

  • CMT2A2
  • CPRP1
  • KIAA0214
  • MARF
  • MFN2_HUMAN
  • mitochondrial assembly regulatory factor

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding MFN2?

acids ; atrophy ; cell ; critical region ; gene ; hereditary ; mitochondria ; morphology ; motor ; neuropathy ; optic atrophy ; peripheral ; peripheral nerves ; peripheral neuropathy ; protein ; sensory neuropathy

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (14 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: January 2010
Published: December 22, 2014