PRPSAP2
Chr 17phosphoribosyl pyrophosphate synthetase associated protein 2
Also known as: PAP41
The protein plays a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis, a key step in purine and pyrimidine nucleotide biosynthesis. Mutations cause Arts syndrome, an X-linked disorder characterized by profound intellectual disability, early-onset sensorineural hearing loss, delayed growth, and increased susceptibility to infections. The gene shows tolerance to loss-of-function variants (pLI 0.003), which is consistent with X-linked inheritance where males are primarily affected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Moderately missense-constrained (top ~2.5%)
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
PRPSAP2 · 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 →No open access results found
External Resources
Links to major genomics databases and tools