4zvj | pdb_00004zvj
From Proteopedia
Structure of human triose phosphate isomerase K13M
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Structural highlights
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. Contents | ||||||||||||||||||||
This page was last modified 03:51, 10 March 2016.