Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
Home A service of the U.S. National Library of Medicine®
Printer-friendly version


Reviewed September 2008

What is the official name of the MEFV gene?

The official name of this gene is “Mediterranean fever.”

MEFV is the gene's official symbol. The MEFV 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 MEFV gene?

The MEFV gene provides instructions for making a protein called pyrin (also known as marenostrin). Although pyrin's function is not fully understood, it likely assists in keeping the inflammation process under control. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has been accomplished, the body stops the inflammatory response to prevent damage to its own cells and tissues.

Pyrin is produced in certain white blood cells (neutrophils, eosinophils, and monocytes) that play a role in inflammation and in fighting infection. Pyrin may direct the migration of white blood cells to sites of inflammation and stop or slow the inflammatory response when it is no longer needed. Pyrin also interacts with other molecules involved in fighting infection and in the inflammatory response. Research indicates that pyrin helps regulate inflammation by interacting with the cytoskeleton, the structural framework that helps to define the shape, size, and movement of a cell.

Does the MEFV gene share characteristics with other genes?

The MEFV gene belongs to a family of genes called TRIM (tripartite motif-containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

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

familial Mediterranean fever - caused by mutations in the MEFV gene

More than 80 MEFV gene mutations that cause familial Mediterranean fever have been identified. A few mutations delete small amounts of DNA from the MEFV gene, which can lead to an abnormally small, nonfunctional protein. Most MEFV gene mutations, however, change one of the protein building blocks (amino acids) used to make pyrin. The most common mutation replaces the amino acid methionine with the amino acid valine at protein position 694 (written as Met694Val or M694V). Among people with familial Mediterranean fever, this particular mutation is also associated with an increased risk of developing amyloidosis, a complication in which abnormal protein deposits can lead to kidney failure. Some evidence suggests that variations in another gene, called SAA1, can further modify the risk of developing amyloidosis among people with the M694V mutation.

MEFV gene mutations lead to reduced amounts of pyrin or a malformed pyrin protein that cannot function properly. As a result, pyrin cannot perform its presumed role in controlling inflammation, leading to an inappropriate or prolonged inflammatory response. Fever and inflammation in the abdomen, chest, joints, or skin are signs of familial Mediterranean fever.

Where is the MEFV gene located?

Cytogenetic Location: 16p13.3

Molecular Location on chromosome 16: base pairs 3,242,027 to 3,256,626

The MEFV gene is located on the short (p) arm of chromosome 16 at position 13.3.

The MEFV gene is located on the short (p) arm of chromosome 16 at position 13.3.

More precisely, the MEFV gene is located from base pair 3,242,027 to base pair 3,256,626 on chromosome 16.

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

Where can I find additional information about MEFV?

You and your healthcare professional may find the following resources about MEFV 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 MEFV gene or gene products?

  • FMF
  • marenostrin
  • MEF
  • MRST
  • pyrin
  • TRIM20

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 MEFV?

acids ; amino acid ; amyloidosis ; cell ; complication ; cytoskeleton ; DNA ; eosinophils ; familial ; fever ; gene ; immune system ; infection ; inflammation ; injury ; kidney ; methionine ; mutation ; neutrophils ; protein ; tissue ; valine ; white blood cells

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

See also Understanding Medical Terminology.

References (19 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: September 2008
Published: October 5, 2015