Aliases for TPK1 Gene
External Ids for TPK1 Gene
Previous GeneCards Identifiers for TPK1 Gene
The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017]
GeneCards Summary for TPK1 Gene
TPK1 (Thiamin Pyrophosphokinase 1) is a Protein Coding gene. Diseases associated with TPK1 include Thiamine Metabolism Dysfunction Syndrome 5 and Megaloblastic Anemia. Among its related pathways are Thiamine metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include kinase activity and thiamine binding.
UniProtKB/Swiss-Prot for TPK1 Gene
Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate.