2mpc | pdb_00002mpc

Solution structure of the pyrin domain of human Pyrin

spinqualitylabelsall models 2mpc, 10 NMR models Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image   Print3D Structural highlights 2mpc is a 1 chain structure with sequence from Human. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance. Gene: MEFV, MEF (HUMAN) 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. See Also Pyrin domain

Proteopedia Page Contributors and Editors (what is this?)

OCA