Entrez gene ID | | 3704 |
Official gene symbol | | ITPA |
Full name | | inosine triphosphatase (nucleoside triphosphate pyrophosphatase) |
Aliases | | ,C20orf37,HLC14-06-P,ITPase,dJ794I6.3, |
Gene summary | | The 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] |
Location | | Chromosome: 20 Locus: 20p |
Gene position | | 3190056 - 3204506 Map Viewer |
Gene orientation | | plus |
Gene size | | 14451 bp |
Gene sequence |
| |
OMIM ID | | 147520 |