6UPF

Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure

6UPF の概要

• エントリーDOI: 10.2210/pdb6upf/pdb
• 分子名称: Triosephosphate isomerase, 2-PHOSPHOGLYCOLIC ACID, GLYCEROL, ... (4 entities in total)
• 機能のキーワード: glycolytic enzyme, alpha beta barrel, isomerase
• 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: 54303.61

構造登録者

Romero, J.M. (登録日: 2019-10-17, 公開日: 2020-07-01, 最終更新日: 2023-10-11)

主引用文献

Romero, J.M.
Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure.
Arch.Biochem.Biophys., 689:108473-108473, 2020

PubMed Abstract: Eleven missense mutations have been describe in human triosephosphate isomerase (TPI), affecting its catalytic function. Several of these mutations generate triosephosphate isomerase deficiency, the consequences of which can in some cases be lethal. The missense F240L mutation was found in a Hungarian patient showing symptoms of chronic hemolytic anemia and neuromuscular dysfunction. In vitro studies using a recombinant version of this mutant showed that it affects kinetic parameters, thermal stability and dimeric stability. Using X-ray crystal structures, the present paper describes how this mutation affected the flexibility of catalytic residues K13 and part of the (β/α) 8-barrel fold facing the dimeric interface in the TPI.

PubMed: 32585311
DOI: 10.1016/j.abb.2020.108473

実験手法

X-RAY DIFFRACTION (1.65 Å)