Aliases for TPK1 Gene
External Ids for TPK1 Gene
Previous GeneCards Identifiers for TPK1 Gene
This gene encodes a protein, that exists as a homodimer, which catalyzes the conversion of thiamine to thiamine pyrophosphate. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
GeneCards Summary for TPK1 Gene
TPK1 (Thiamin Pyrophosphokinase 1) is a Protein Coding gene. Diseases associated with TPK1 include childhood encephalopathy due to thiamine pyrophosphokinase deficiency and thiamine metabolism dysfunction syndrome 5. Among its related pathways are Metabolism and Metabolism of 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.