MEFV

MEFV
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2WL1, 2MPC, 4CG4
Identifiers
Aliases	MEFV, FMF, MEF, TRIM20, Mediterranean fever, pyrin innate immunity regulator, MEFV innate immuity regulator, pyrin, PAAND
External IDs	OMIM: 608107 MGI: 1859396 HomoloGene: 32441 GeneCards: MEFV
Gene location (Human)
Chr.	Chromosome 16 (human)
End	3,256,633 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	3,535,961 bp
RNA expression pattern
	Top expressed in
	monocyte; ; blood; ; bone marrow cells; ; spleen; ; appendix; ; right lung; ; upper lobe of left lung; ; smooth muscle tissue; ; gallbladder; ; sural nerve;
	Top expressed in
	female urethra; ; blood; ; bone marrow; ; spleen; ; temporal muscle; ; right ventricle; ; submandibular gland; ; carotid body; ; medial ganglionic eminence; ; neck;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	zinc ion binding; metal ion binding; protein binding; actin binding; identical protein binding;
Cellular component	cytoplasm; cytosol; cell projection; ruffle; intracellular anatomical structure; microtubule associated complex; autophagosome; microtubule; cytoskeleton; cytoplasmic vesicle; nucleus; lamellipodium;
Biological process	positive regulation of cysteine-type endopeptidase activity; negative regulation of interleukin-1 beta production; response to interferon-gamma; positive regulation of autophagy; negative regulation of macrophage inflammatory protein 1 alpha production; immune system process; negative regulation of NLRP3 inflammasome complex assembly; inflammatory response; negative regulation of inflammatory response; negative regulation of cytokine production involved in inflammatory response; negative regulation of interleukin-12 production; innate immune response;
	Sources:Amigo / QuickGO
Orthologs
	4210
	54483
	ENSG00000103313
	ENSMUSG00000022534
	O15553
	Q9JJ26
	NM_001198536; NM_000243
	NM_001161790; NM_001161791; NM_019453
	NP_000234; NP_001185465
	NP_001155262; NP_001155263; NP_062326
	Wikidata
View/Edit Human	View/Edit Mouse

MEFV (Mediterranean fever) is a human gene that provides instructions for making a protein called pyrin (also known as marenostrin). Pyrin is produced in certain white blood cells (neutrophils, eosinophils and monocytes) that play a role in inflammation and in fighting infection. Inside these white blood cells, pyrin is found with the cytoskeleton, the structural framework that helps to define the shape, size, and movement of a cell. Pyrin's protein structure also allows it to interact with other molecules involved in fighting infection and in the inflammatory response.

Although pyrin's function is not fully understood, it likely assists in keeping the inflammation process under control. Research indicates that pyrin helps regulate inflammation by interacting with the cytoskeleton. 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.

The MEFV gene is located on the short (p) arm of chromosome 16 at position 13.3, from base pair 3,292,027 to 3,306,626.

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