ITPA, Official Symbol ITPAprovided by HGNC Official Full Name inosine triphosphataseprovided by HGNC Primary source HGNC:HGNC:6176 See related Ensembl:ENSG00000125877 MIM:147520; AllianceGenome:HGNC:6176 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEE35; My049; ITPase; NTPase; C20orf37; dJ794I6.3; HLC14-06-P 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] Expression Ubiquitous expression in thyroid (RPKM 6.0), lymph node (RPKM 5.7) and 25 other tissues See more Orthologs mouse all