TPI1
Protein-coding gene in the species Homo sapiens / From Wikipedia, the free encyclopedia
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Triosephosphate isomerase is an enzyme that in humans is encoded by the TPI1 gene.
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TPI1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | TPI1, HEL-S-49, TIM, TPI, TPID, triosephosphate isomerase 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 190450 MGI: 98797 HomoloGene: 128432 GeneCards: TPI1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehyde 3-phosphate (G3P) and dihydroxyacetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants.[5]