Protein Name | inosine triphosphatase |
---|---|
Organism | Homo sapiens |
Gene ID | 3704 |
Gene Symbol | ITPA |
UniProt | Q9BY32 (ITPA_HUMAN), A0A0S2Z3W7 (A0A0S2Z3W7_HUMAN), Q8WWI0 (Q8WWI0_HUMAN), A0A0S2Z423 (A0A0S2Z423_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
170
Total Number of Articles : 226 |
Description |
inosine triphosphatase |
Gene Summary |
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] |
synonyms |
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Properties | |