6I4R

Crystal structure of the disease-causing R460G mutant of the human dihydrolipoamide dehydrogenase at 1.44 Angstrom resolution

6I4R の概要

• エントリーDOI: 10.2210/pdb6i4r/pdb
• 分子名称: Dihydrolipoyl dehydrogenase, mitochondrial, FLAVIN-ADENINE DINUCLEOTIDE, SULFATE ION, ... (5 entities in total)
• 機能のキーワード: lipoamide dehydrogenase, pathogenic mutation, e3 deficiency, alpha-ketoglutarate dehydrogenase complex, 2-oxoglutarate dehydrogenase complex, pyruvate dehydrogenase complex, oxidoreductase
• 由来する生物種: Homo sapiens (Human)
• タンパク質・核酸の鎖数: 2
• 化学式量合計: 107928.20

構造登録者

Szabo, E.,Wilk, P.,Bui, D.,Torocsik, B.,Weiss, M.S.,Adam-Vizi, V.,Ambrus, A. (登録日: 2018-11-10, 公開日: 2019-11-20, 最終更新日: 2024-01-24)

• 主引用文献: 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; PubMed: 31334547; DOI: 10.1093/hmg/ddz177

実験手法

X-RAY DIFFRACTION (1.439 Å)