EC Number   |
General Information |
Reference |
|---|
    2.7.6.2 | malfunction |
TPK1 mutations cause thiamine pyrophosphokinase deficiency, a treatable neurological disorder. Diagnosis of TPK deficiency in a clinical setting, overview. TPK1 mutations result in episodic encephalopathy type thiamine metabolism dysfunction is the most recently described disorder of this group |
739080 |
| 2.7.6.2 | physiological function |
thiamine diphosphate is a cofactor for enzymes important in a range of fundamental processes such as cellular respiration (pyruvate dehydrogenase and 2-ketoglutarate dehydrogenase) and in providing substrates for synthesis of nucleic acids, nucleotides, fatty acids and steroids (transketolase in the pentose phosphate pathway). It is needed for the catabolism of amino acids (branched-chain ?-keto acid dehydrogenase), phytanic acid and 2-hydroxy straight chain fatty acids (2-hydroxyphytanoyl-CoA lyase) |
739080 |
| 2.7.6.2 | physiological function |
TPK1 is post-transcriptionally upregulated in cancer cells following hypoxic exposure. TPK1 expression is also adaptively upregulated following alterations of redox status by chemotherapeutic and antioxidant treatments. Despite upregulation by hypoxia, intracellular TPP levels are reduced. This loss was reversed by treatment with cell-permeable antioxidants and corresponds with reduced ROS production and enhanced cellular proliferation during supplemental thiamine conditions. siRNA-mediated knockdown of TPK1 directly enhances basal ROS levels and reduces tumor cell proliferation |
762080 |
