Thiamin pyrophosphokinase 1 (TPK1)

Thiamin pyrophosphokinase 1 (TPK1) is a cytosolic enzyme that catalyzes the phosphorylation of thiamine (vitamin B1) to thiamine pyrophosphate (TPP), a crucial cofactor required for several mitochondrial enzymes involved in energy metabolism—particularly in the glycolysis and Krebs cycle pathways. TPK1 typically exists as a homodimer, with its function being essential for cellular energy homeostasis. Mutations in the TPK1 gene can impair the conversion of thiamine to TPP, leading to metabolic dysfunction and neurological syndromes collectively classified as thiamine metabolism dysfunction syndrome-5 (THMD5). TPK1 is also being evaluated as a biomarker in cancer, where its increased expression may facilitate tumor metabolism and could predict responsiveness to certain therapies[1][2][3][4][5].

Other names

PP20THMD5HTPK1hTPK1placental protein 20thiamine pyrophosphokinase 1thiamine kinasethiamine diphosphokinase

Drugs (like thiamine supplements) act by increasing substrate availability for TPK1, thereby boosting thiamine pyrophosphate synthesis in cases of deficiency.