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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
MEFV Resources | |
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Contributors: Prab R. Tumpati, MD