Your search for "rpusd3" returned 58 TaqMan® SNP Genotyping Assays
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]
2010016I08RIK, AU020102, C20ORF37, DJ794I6.3, HLC14-06-P, ITP, ITPA, ITPASE, MY049, NTPASE
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