Transaldolase 1

Transaldolase 1 (TALDO1) is an enzyme that in humans is encoded by the TALDO1 gene. It is a key enzyme in the pentose phosphate pathway, a metabolic pathway parallel to glycolysis that generates NADPH and pentoses (5-carbon sugars) as well as ribose 5-phosphate, the latter a precursor for the synthesis of nucleotides.

Function

Transaldolase 1 is a transaldolase enzyme that catalyzes the transfer of a dihydroxyacetone group from a ketose donor to an aldose acceptor through a covalent enzyme-intermediate, showing a preference for fructose 6-phosphate. This is a critical reaction in the pentose phosphate pathway to ensure the balance of NADPH production and the synthesis of ribose 5-phosphate.

Clinical significance

Mutations in the TALDO1 gene are associated with transaldolase deficiency, a rare autosomal recessive disorder characterized by hepatomegaly, cirrhosis, chronic liver disease, anemia, and hydrops fetalis.

See also

• Transaldolase
• Pentose phosphate pathway
• Transaldolase deficiency

External links

• GeneCards: TALDO1

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