6I4T
Crystal structure of the disease-causing I445M mutant of the human dihydrolipoamide dehydrogenase
Summary for 6I4T
Entry DOI | 10.2210/pdb6i4t/pdb |
Descriptor | Dihydrolipoyl dehydrogenase, mitochondrial, FLAVIN-ADENINE DINUCLEOTIDE, SULFATE ION, ... (5 entities in total) |
Functional Keywords | lipoamide dehydrogenase, pathogenic mutation, e3 deficiency, alpha-ketoglutarate dehydrogenase complex, 2-oxoglutarate dehydrogenase complex, pyruvate dehydrogenase complex, oxidoreductase |
Biological source | Homo sapiens (Human) |
Total number of polymer chains | 2 |
Total formula weight | 107888.30 |
Authors | Szabo, E.,Wilk, P.,Zambo, Z.,Torocsik, B.,Weiss, M.S.,Adam-Vizi, V.,Ambrus, A. (deposition date: 2018-11-10, release date: 2019-11-20, Last modification date: 2024-01-24) |
Primary citation | Szabo, E.,Wilk, P.,Nagy, B.,Zambo, Z.,Bui, D.,Weichsel, A.,Arjunan, P.,Torocsik, B.,Hubert, A.,Furey, W.,Montfort, W.R.,Jordan, F.,Weiss, M.S.,Adam-Vizi, V.,Ambrus, A. Underlying molecular alterations in human dihydrolipoamide dehydrogenase deficiency revealed by structural analyses of disease-causing enzyme variants. Hum.Mol.Genet., 28:3339-3354, 2019 Cited by PubMed: 31334547DOI: 10.1093/hmg/ddz177 PDB entries with the same primary citation |
Experimental method | X-RAY DIFFRACTION (1.823 Å) |
Structure validation
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