{"symbol":"ITPA","synonyms":["C20ORF37","DJ794I6.3","HLC14-06-P","MY049","ITPase","NTPase"],"name":"inosine triphosphatase (nucleoside triphosphate pyrophosphatase)","description":"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]","ncbiEntrezGeneId":3704,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/3704","proteins":[{"symbol":"ITPA_HUMAN","href":"/api/1.0/protein/ITPA_HUMAN"}],"hgncRootFamilies":[]}