Gene Symbol | ITPA |
Entrez Gene ID | 3704 |
Full Name | inosine triphosphatase |
Synonyms | C20orf37,HLC14-06-P,ITPase,My049,NTPase,dJ794I6.3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | [Inosine triphosphatase deficiency], 613850 (3); Epileptic encephalopathy, early infantile, 35, 616647 (3) |