Triosephosphate isomerase (TIM) catalyses the reversible interconversion of G3P and DHAP. Only G3P can be used in glycolysis, therefore TIM is essential for energy production, allowing two molecules of G3P to be produced for every glucose molecule, thereby doubling the energy yield. 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.
Cytoplasmic and Nuclear; extracellular vesicle exosome; extracellular space.
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