Description
Product Characteristics:
ITPase (inosine triphosphate pyrophosphatase) is also known as putative oncogene protein hlc14-06-p or ITPA (inosine triphosphatase (nucleoside triphosphate pyrophosphatase)) and is a 194 amino acid protein. ITPase is abundantly expressed in heart, liver, sex glands, thyroid and adrenal gland, and is localized to the cytoplasm in the cell. ITPase catalyzes the pyrophosphohydrolysis of both ITP (inosine triphosphate) and dITP (deoxyinosine triphosphate) to IMP (inosine monophosphate) and diphosphate. IMP can be used as a substrate for purine nucleotide pathways. IMP can be phosphorylated to ITP, and ITPase can regulate the concentration of ITP in the cell by converting ITP back to IMP. Defects in ITPase result in ITPase deficiency which is thought to be inherited and is characterized by an over-accumulation of ITP in erythocytes, leukocytes and fibroblasts.
Subcellular location: Cytoplasm
Synonyms: ITPase, C20orf37, dJ794I6.3, HLC14-06-P, Inosine triphosphatase nucleoside triphosphate pyrophosphatase, Inosine triphosphatase, inosine triphosphatase-A, Inosine triphosphate pyrophosphatase, Inosine triphosphate pyrophosphohydrolase, Itpa, ITPA_HUMAN, ITPase, My049, My049 protein, Non canonical purine NTP pyrophosphatase, Non standard purine NTP pyrophosphatase, NTPase, nucleoside triphosphate diphosphatase, Nucleoside triphosphate pyrophosphatase, OK/SW-cl.9, OTTHUMP00000030094, OTTHUMP00000160459, Putative oncogene protein hlc14-06-p.
Target Information: This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This 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 which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]