ITPA inosine triphosphatase
Gene ID: 3704, updated on 22-Apr-2024Gene type: protein coding
Also known as: DEE35; My049; ITPase; NTPase; C20orf37; dJ794I6.3; HLC14-06-P
- See all available tests in GTR for this gene
- Go to complete Gene record for ITPA
- Go to Variation Viewer for ITPA variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Developmental and epileptic encephalopathy, 35 | See labs |
| Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C. GeneReviews: Not available | |
| Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients. GeneReviews: Not available | |
| Inosine triphosphatase deficiency | See labs |
| ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. GeneReviews: Not available | |
| ITPA polymorphism affects ribavirin-induced anemia and outcomes of therapy--a genome-wide study of Japanese HCV virus patients. GeneReviews: Not available |
Genomic context
- Location:
- 20p13
- Sequence:
- Chromosome: 20; NC_000020.11 (3204065..3227449)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ITPA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- ITPA database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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