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 Thiamine Metabolism Dysfunction Syndrome 5 and Childhood Encephalopathy Due To Thiamine Pyrophosphokinase Deficiency. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism. 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.