MEFV

MEFV is a gene that provides instructions for making a protein called pyrin (also known as marenostrin). This protein is found in white blood cells, which are involved in the body's immune response. Pyrin plays a role in the maturation of these cells and in the inflammatory response to infection.

Function

The MEFV gene provides instructions for making a protein called pyrin (also known as marenostrin). This protein is found in white blood cells, which are involved in the body's immune response. Pyrin plays a role in the maturation of these cells and in the inflammatory response to infection.

Clinical significance

Mutations in the MEFV gene are associated with Familial Mediterranean fever (FMF), a disorder characterized by recurrent episodes of fever and inflammation in the abdomen, chest, and joints. These episodes are often accompanied by a rash. The inflammation and fever are typically severe and last for one to three days.

Genetics

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 3,277,392 to base pair 3,294,896 on chromosome 16.

See also

• Familial Mediterranean fever
• Pyrin
• Chromosome 16

External links

• NCBI Gene
• Genetics Home Reference

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