ITPA, CT (ITPA, C20orf37, Inosine triphosphate pyrophosphatase, Non-canonical purine NTP pyrophosphatase, Non-standard purine NTP pyrophosphatase, Nucleoside-triphosphate diphosphatase, Nucleoside-triphosphate pyrophosphatase, Putative oncogene protein hlc14-06-p) (Biotin)

The protein encoded by this gene hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. The encoded protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency. 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. Applications: Suitable...