ITPA

Inosine triphosphate pyrophosphatase is an is_associated_with::enzyme that in humans is encoded by the ITPA is_associated_with::gene, by the rdgB is_associated_with::gene in bacteria E.coli and the HAM1 is_associated_with::gene in yeast S. cerevisiae. Two transcript variants encoding two different isoforms have been found for this gene. Also, at least two other transcript variants have been identified which are probably regulatory rather than protein-coding.

Function
The is_associated_with::protein encoded by this gene is_associated_with::hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. The enzyme possesses a multiple substrate-specificity and acts on other nucleotides including is_associated_with::xanthosine triphosphate and deoxyxanthosine triphosphate. The encoded protein, which is a member of the HAM1 NTPase is_associated_with::protein family, is found in the is_associated_with::cytoplasm and acts as a is_associated_with::homodimer.

Clinical significance
Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency.