7uxb
Human triosephosphate isomerase mutant G122RHuman triosephosphate isomerase mutant G122R
Structural highlights
DiseaseTPIS_HUMAN Defects in TPI1 are the cause of triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450. TPI deficiency is an autosomal recessive disorder. It is the most severe clinical disorder of glycolysis. It is associated with neonatal jaundice, chronic hemolytic anemia, progressive neuromuscular dysfunction, cardiomyopathy and increased susceptibility to infection. FunctionPublication Abstract from PubMedHuman triosephosphate isomerase G122R, also known as TPI-Manchester, is a thermolabile variant detected in a screening of more than 3400 individuals from a population in Ann Arbor, Michigan. Here, the crystallographic structure of G122R was solved to determine the molecular basis of its thermal stability. Structural analysis revealed an increase in the flexibility of residues at the dimer interface, even though R122 is about 20 A away, suggesting that long-range electrostatic interactions may play a key role in the mutation effect. Structural analysis of the TPI-Manchester, a thermolabile variant of human triosephosphate isomerase.,Romero JM Arch Biochem Biophys. 2024 Nov;761:110156. doi: 10.1016/j.abb.2024.110156. Epub , 2024 Sep 17. PMID:39299479[1] From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine. See AlsoReferences
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