6I4Z

Crystal structure of the disease-causing P453L mutant of the human dihydrolipoamide dehydrogenase

Summary for 6I4Z

Entry DOI	10.2210/pdb6i4z/pdb
Descriptor	Dihydrolipoyl dehydrogenase, mitochondrial, FLAVIN-ADENINE DINUCLEOTIDE, SULFATE ION, ... (4 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	8
Total formula weight	430103.82
Authors	Szabo, E.,Wilk, P.,Torocsik, B.,Weiss, M.S.,Adam-Vizi, V.,Ambrus, A. (deposition date: 2018-11-12, 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: 31334547 DOI: 10.1093/hmg/ddz177 PDB entries with the same primary citation
Experimental method	X-RAY DIFFRACTION (2.342 Å)

Structure validation