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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ITPA-20-RE | 20 (40 μL) | 200 μL |  |
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| ITPA-20-OR | 20 (40 μL) | 200 μL |  |
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| ITPA-20-GO | 20 (40 μL) | 200 μL |  |
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| ITPA-20-GR | 20 (40 μL) | 200 μL |  |
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| ITPA-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : ITPA
Gene Name : Inosine triphosphatase
Chromosome : CHR 20: 320,886,7-322,744,8
Locus : 20p13
Alt. Genes : TRIM10
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