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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for ITPA (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID3704
Official gene symbolITPA
Full nameinosine triphosphatase (nucleoside triphosphate pyrophosphatase)
Aliases,C20orf37,HLC14-06-P,ITPase,dJ794I6.3,
Gene summaryThe protein encoded by this gene hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. The encoded 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. Two transcript variants encoding two different isoforms have been found for this gene. Also, at least two other transcript variants have been identified which are probably regulatory rather than protein-coding. [provided by RefSeq]
LocationChromosome: 20   Locus: 20p
Gene position3190056 - 3204506  Map Viewer
Gene orientationplus
Gene size14451 bp
Gene sequence
OMIM ID147520