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MFN2

Reviewed April 2007

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.

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 envelope (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 more than 30 MFN2 mutations that cause a form of Charcot-Marie-Tooth disease known as type 2A. Almost all these mutations replace one of the protein building blocks (amino acids) in mitofusin 2 with an incorrect amino acid. As a result, the mitofusin 2 protein is altered in a critical region and 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 mutations sometimes 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 optic atrophy, in which the nerves that carry information from the eyes to the brain (optic nerves) shrink. People with this variant usually experience severe symptoms of Charcot-Marie-Tooth disease that begin before the age of 10.

It remains unclear how MFN2 mutations lead to nerve problems that are characteristic of type 2A Charcot-Marie-Tooth disease. Without functional mitofusin 2, researchers suggest that mitochondria cannot fuse properly, perhaps disrupting a steady supply of energy to the cell. Nerve cells, which have long extensions (axons) to transmit nerve impulses, may be particularly sensitive to an interrupted energy supply.

Where is the MFN2 gene located?

Cytogenetic Location: 1p36.22

Molecular Location on chromosome 1: base pairs 11,962,955 to 11,996,151

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 11,962,955 to base pair 11,996,151 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?

  • 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 ; amino acid ; atrophy ; axons ; cell ; critical region ; gene ; mitochondria ; morphology ; motor ; mutation ; nerve cell ; neuropathy ; optic atrophy ; optic nerve ; peripheral ; peripheral nerves ; peripheral neuropathy ; protein ; sensory neuropathy ; symptom ; tissue

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

References (10 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: April 2007
Published: January 23, 2009