ENTPD1
Chr 10ARectonucleoside triphosphate diphosphohydrolase 1
Also known as: ATP-DPH, ATPDase, CD39, NTPDase-1, SPG64
The encoded protein is a plasma membrane enzyme that hydrolyzes extracellular ATP and ADP to AMP, regulating nucleotide levels and preventing platelet aggregation to support blood flow. Biallelic mutations cause spastic paraplegia 64, an autosomal recessive disorder affecting the motor system. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.602).
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ENTPD1 · 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
External Resources
Links to major genomics databases and tools