Molecular cloning of human thiamin pyrophosphokinase

Thiamin pyrophosphokinase (TPK, EC 2.7.6.2) catalyses phosphorylation of th iamin to thiamin pyrophosphate, an active enzyme cofactor. Here we describe the cloning of complete human TPK1 cDNA from an adult liver library. Human TPK1 is 89% identical to murine TPK1 at the protein level. The gene maps t o chromosome 7q34-36, consists of at least eight exons, and spans a distanc e at least of 420 kb. The mRNA of human TPK1 is highly expressed in testis, small intestine and kidney with lesser but detectable expression in brain, liver, placenta and spleen. The availability of the human TPK1 gene will p rovide another useful tool for studying the role of this enzyme in human th iamin metabolism and deficiency state. (C) 2001 Elsevier Science B.V. All r ights reserved.