AlphaFold predicted structure
ITPA · Q9BY32
Mean pLDDT
95.1/ 100
Very high
194 residues
Confidence breakdown
- Very high(≥ 90)91%
- Confident(70–90)7%
- Low(50–70)3%
- Very low(< 50)0%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ITPA
Chr 20p13inosine triphosphatase
- Aliases:
- HLC14-06-P, dJ794I6.3
- MANE:
- ENST00000380113.8
Annotations refreshed 8 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
developmental and epileptic encephalopathy, 35
0.77inosine triphosphatase deficiency
0.74genetic developmental and epileptic encephalopathy
0.62chronic hepatitis C virus infection
0.44infantile epileptic-dyskinetic encephalopathy
0.44anemia (phenotype)
0.38response to ribavirin
0.36Hypodontia
0.34hereditary disease
0.34neurodegenerative disease
0.30
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Inosine triphosphate pyrophosphatase
Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triphosphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions
Diseases associated with ITPA
Curated MONDO disease pages that list ITPA among their top associated genes.