Aliases for ITPA Gene
External Ids for ITPA Gene
Previous HGNC Symbols for ITPA Gene
Previous GeneCards Identifiers for ITPA Gene
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]
GeneCards Summary for ITPA Gene
ITPA (Inosine Triphosphatase) is a Protein Coding gene. Diseases associated with ITPA include woodhouse-sakati syndrome and inosine triphosphate pyrophosphohydrolase deficiency. Among its related pathways are Metabolism and One carbon pool by folate. GO annotations related to this gene include nucleotide binding and nucleoside-triphosphate diphosphatase activity.
UniProtKB/Swiss-Prot for ITPA Gene
Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2-deoxy-N-6-hydroxylaminopurine triposphate (dHAPTP) and xanthosine 5-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions.