9r6y

Pyrin B30.2 domain, FMF mutation R653H

spinqualitylabelsall models 9r6y, resolution 1.26Å Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image   Print3D Structural highlights 9r6y is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance. Method: X-ray diffraction, Resolution 1.26Å Ligands: ACT, EDO, SCN Resources: FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT Disease MEFV_HUMAN Defects in MEFV are the cause of familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100. ARFMF is an inherited disorder characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. ARFMF is frequently complicated by amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine. ARFMF primarily affects ancestral ethnic groups living around the Mediterranean basin: North African Jews, Armenians, Arabs and Turks. The disease is also distributed in other populations including Greeks, Cypriots, Italians and Spanish, although at a lower prevalence. Defects in MEFV are the cause of familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610. ADFMF is characterized by periodic fever, serosal inflammation and pain in the abdomen, chest or joints as seen also in the autosomal recessive form of the disease. It is associated with renal amyloidosis and characterized by colchicine unresponsiveness. Function MEFV_HUMAN Probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton organization.

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