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ITPA

From SNPedia
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Full nameinosine triphosphatase (nucleoside triphosphate pyrophosphatase)
EntrezGene3704
PheGenI3704
VariationViewer3704
ClinVarITPA
GeneCardsITPA
dbSNP3704
DiseasesITPA
SADR3704
HugeNav3704
wikipediaITPA
googleITPA
gopubmedITPA
EVSITPA
HEFalMpITPA
MyGene2ITPA
23andMeITPA
UniProtQ9BY32
EnsemblENSG00000125877
OMIM147520
# SNPs7
 Max MagnitudeChromosome positionSummary
rs11273543.23,213,196
rs20008626203,221,881
rs613903003,207,087
rs6700256303,213,527
rs72701013.33,213,247
rs74693099003,223,409
rs86322542403,218,587


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