3rmu | pdb_00003rmu

Crystal structure of human Methylmalonyl-CoA epimerase, MCEE

spinqualitylabelsall models 3rmu, resolution 1.80Å Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image   Print3D Structural highlights 3rmu is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance. Ligands: CO, EDO, PG4 Gene: MCEE (Homo sapiens) Activity: Methylmalonyl-CoA epimerase, with EC number 5.1.99.1 Resources: FirstGlance, OCA, RCSB, PDBsum Disease [MCEE_HUMAN] Vitamin B12-unresponsive methylmalonic acidemia. Methylmalonyl-CoA epimerase deficiency (MCEED) [MIM:251120]: Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma. Note=The disease is caused by mutations affecting the gene represented in this entry.

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