6UPF

Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure

Summary for 6UPF

Entry DOI	10.2210/pdb6upf/pdb
Descriptor	Triosephosphate isomerase, 2-PHOSPHOGLYCOLIC ACID, GLYCEROL, ... (4 entities in total)
Functional Keywords	glycolytic enzyme, alpha beta barrel, isomerase
Biological source	Homo sapiens (Human)
Total number of polymer chains	2
Total formula weight	54303.61
Authors	Romero, J.M. (deposition date: 2019-10-17, release date: 2020-07-01, Last modification date: 2023-10-11)
Primary citation	Romero, J.M. Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure. Arch.Biochem.Biophys., 689:108473-108473, 2020 Cited by 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 PDB entries with the same primary citation
Experimental method	X-RAY DIFFRACTION (1.65 Å)

Structure validation