Pyrin

Pyrin is a protein that in humans is encoded by the MEFV gene. It is involved in the immune response and acts as a sensor for modifications in the cytosol, the liquid found inside cells. Pyrin is named after the Greek word for fire, reflecting its role in inflammation.

Structure

Pyrin is a large protein of 781 amino acids. It has several distinct domains, including a PYD domain at the N-terminus, a B-box zinc finger, a coiled-coil domain, and a B30.2/SPRY domain at the C-terminus. The B30.2/SPRY domain is thought to be responsible for sensing changes in the cytosol.

Function

Pyrin plays a crucial role in the immune response. It is part of the inflammasome, a complex of proteins that activates inflammatory responses. When activated, pyrin triggers the release of cytokines, proteins that signal other cells to mount an immune response. Pyrin is also involved in apoptosis, the process of programmed cell death.

Clinical significance

Mutations in the MEFV gene that encodes pyrin can lead to a group of disorders known as autoinflammatory diseases. These include Familial Mediterranean Fever (FMF), a disease characterized by recurrent episodes of fever and inflammation in the abdomen, chest, and joints. Other diseases associated with MEFV mutations include Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis (PAAND) and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome (MKD/HIDS).

See also

• Inflammasome
• Familial Mediterranean Fever
• Autoinflammatory diseases
• Cytokines
• Apoptosis

References

Pyrin Resources
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