5j5z | pdb_00005j5z

Crystal structure of the D444V disease-causing mutant of the human dihydrolipoamide dehydrogenase

spinqualitylabelsall models 5j5z, resolution 1.84Å Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image   Print3D Structural highlights 5j5z is a 2 chain structure with sequence from Human. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance. Ligands: FAD, GOL, PO4 Gene: DLD, GCSL, LAD, PHE3 (HUMAN) Activity: Dihydrolipoyl dehydrogenase, with EC number 1.8.1.4 Resources: FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT Disease [DLDH_HUMAN] Note=Defects in DLD are involved in the development of congenital infantile lactic acidosis. Defects in DLD are a cause of maple syrup urine disease (MSUD) [MIM:248600]. MSUD is characterized by mental and physical retardation, feeding problems and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine, resulting from a block in oxidative decarboxylation. Function [DLDH_HUMAN] Lipoamide dehydrogenase is a component of the glycine cleavage system as well as of the alpha-ketoacid dehydrogenase complexes. Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction.

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