Gene ITPA

ITPA is inosine triphosphatase. Defects in ITPA can cause inosine triphosphate pyrophosphorylase deficiency. Possible molecular mechanism is described at here [1].

1. Stenmark P, Kursula P, Flodin S, Gräslund S, Landry R, Nordlund P, and Schüler H. Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T. J Biol Chem. 2007 Feb 2;282(5):3182-7. DOI:10.1074/jbc.M609838200 |