GENETIC ENCYCLOPEDIA
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gene: ITPA

id3704
symbolITPA
organismHomo sapiens
full nameinosine triphosphatase
summaryThis 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]
variant-disease

NM_033453.3(ITPA):c.278A>G (p.Glu93Gly) AND not provided

NM_033453.3(ITPA):c.488C>T (p.Thr163Met) AND Inosine triphosphatase deficiency

NM_033453.3(ITPA):c.129G>T (p.Pro43=) AND Inosine triphosphatase deficiency

NM_033453.3(ITPA):c.403C>T (p.Arg135Trp) AND Inosine triphosphatase deficiency

NM_033453.3(ITPA):c.508G>A (p.Ala170Thr) AND Inosine triphosphatase deficiency

... 82 more


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