6c2g | pdb_00006c2g
From Proteopedia
Human triosephosphate isomerase mutant V231M
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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 07:40, 21 March 2018.