6CER

Human pyruvate dehydrogenase complex E1 component V138M mutation

6CER の概要

• エントリーDOI: 10.2210/pdb6cer/pdb
• 関連するPDBエントリー: 1NI4
• 分子名称: Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial, Pyruvate dehydrogenase E1 component subunit beta, mitochondrial, THIAMINE DIPHOSPHATE, ... (5 entities in total)
• 機能のキーワード: pyruvate dehydrogenase deficiency, mutation, thiamin diphosphate, metabolism, oxidoreductase
• 由来する生物種: Homo sapiens (Human); 詳細
• タンパク質・核酸の鎖数: 8
• 化学式量合計: 309077.83

構造登録者

Whitley, M.J.,Arjunan, P.,Furey, W. (登録日: 2018-02-12, 公開日: 2018-07-11, 最終更新日: 2023-10-04)

• 主引用文献: Whitley, M.J.,Arjunan, P.,Nemeria, N.S.,Korotchkina, L.G.,Park, Y.H.,Patel, M.S.,Jordan, F.,Furey, W.; Pyruvate dehydrogenase complex deficiency is linked to regulatory loop disorder in the alpha V138M variant of human pyruvate dehydrogenase.; J. Biol. Chem., 293:13204-13213, 2018; PubMed: 29970614; DOI: 10.1074/jbc.RA118.003996

実験手法

X-RAY DIFFRACTION (2.69 Å)