7uxv | pdb_00007uxv
From Proteopedia
human triosephosphate isomerase mutant G122R
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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. FunctionContents | ||||||||||||||||||
This page was last modified 06:48, 10 May 2023.