ITPA
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | inosine triphosphatase (nucleoside triphosphate pyrophosphatase) |
| EntrezGene | 3704 |
| PheGenI | 3704 |
| VariationViewer | 3704 |
| ClinVar | ITPA |
| GeneCards | ITPA |
| dbSNP | 3704 |
| Diseases | ITPA |
| SADR | 3704 |
| HugeNav | 3704 |
| wikipedia | ITPA |
| ITPA | |
| gopubmed | ITPA |
| EVS | ITPA |
| HEFalMp | ITPA |
| MyGene2 | ITPA |
| 23andMe | ITPA |
| UniProt | Q9BY32 |
| Ensembl | ENSG00000125877 |
| OMIM | 147520 |
| # SNPs | 7 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1127354 | 3.2 | 3,213,196 | |
| rs200086262 | 0 | 3,221,881 | |
| rs6139030 | 0 | 3,207,087 | |
| rs67002563 | 0 | 3,213,527 | |
| rs7270101 | 3.3 | 3,213,247 | |
| rs746930990 | 0 | 3,223,409 | |
| rs863225424 | 0 | 3,218,587 |
The ITPA gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. Defects in the encoded protein can result in Inosine triphosphatase deficiency which causes an accumulation of ITP in red blood cells.
See Inosine triphosphatase deficiency
