Gene Symbol | TPI1 |
Entrez Gene ID | 7167 |
Full Name | triosephosphate isomerase 1 |
Synonyms | HEL-S-49,TIM,TPI,TPID |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone 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. [provided by RefSeq, Apr 2009]. |
Disorder MIM: | |
Disorder Html: | Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3) |