7uxv

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human triosephosphate isomerase mutant G122R

Structural highlights

7uxv is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:	X-ray diffraction, Resolution 2.15Å
Ligands:	, ,
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

TPIS_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.

Function

TPIS_HUMAN

Publication Abstract from PubMed

Human 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.

References

↑ Romero JM. Structural analysis of the TPI-Manchester, a thermolabile variant of human triosephosphate isomerase. Arch Biochem Biophys. 2024 Nov;761:110156. PMID:39299479 doi:10.1016/j.abb.2024.110156