ITPA
Chr 20ARinosine triphosphatase
Also known as: C20orf37, DEE35, HLC14-06-P, ITPase, My049, NTPase, dJ794I6.3
The encoded protein functions as an inosine triphosphate pyrophosphohydrolase that hydrolyzes inosine triphosphate and deoxyinosine triphosphate to monophosphate nucleotides and diphosphate in the cytoplasm. Mutations cause autosomal recessive inosine triphosphatase deficiency, which leads to ITP accumulation in red blood cells, and developmental and epileptic encephalopathy 35. The pathogenic mechanism appears to involve dominant-negative effects of mutant proteins.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ITPA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools