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MGP003060

UniProt Annotations

Entry Information
Gene Nametransaldolase 1
Protein EntryTALDO_HUMAN
UniProt IDP37837
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivitySedoheptulose 7-phosphate + D-glyceraldehyde 3-phosphate = D-erythrose 4-phosphate + D-fructose 6-phosphate.
DiseaseTransaldolase 1 deficiency (TALDO1 deficiency) [MIM:606003]: Results in telangiectases of the skin, hepatosplenomegaly, and enlarged clitoris. {ECO:0000269|PubMed:11283793}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionTransaldolase is important for the balance of metabolites in the pentose-phosphate pathway.
PathwayCarbohydrate degradation; pentose phosphate pathway; D- glyceraldehyde 3-phosphate and beta-D-fructose 6-phosphate from D- ribose 5-phosphate and D-xylulose 5-phosphate (non-oxidative stage): step 2/3.
SimilarityBelongs to the transaldolase family. Type 1 subfamily. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000305}.
SubunitHomodimer. {ECO:0000269|PubMed:10869557}.
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