inosine triphosphate pyrophosphatase; ITPase; inosine triphosphatase; non-canonical purine NTP pyrophosphatase; non-standard purine NTP pyrophosphatase; nucleoside-triphosphate diphosphatase; nucleoside-triphosphate pyrophosphatase; NTPase; oncogene protein hlc14-06-p (ITPA C20orf37 My049 OK/SW-cl9)

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Function

Cofactor: binds 1 Mg+2 per subunit

Kinetic parameters:

Structure

Compartment

cytoplasm

Expression

Pathology

  • defects in ITPA are the cause of ITPA deficiency
  • consequences of ITPA deficiency, if any, are unknown

Polymorphism

  • three different human populations have been reported with respect to their ITPase activity: high, mean (25% of high) & low activity
  • the variant Thr-32 is associated with complete loss of enzyme activity, may be by altering the local secondary structure of the protein

Laboratory

More general terms

References

Database