UPB1
Chr 22ARbeta-ureidopropionase 1
Also known as: BUP1
Beta-ureidopropionase catalyzes the final step in pyrimidine degradation, converting N-carbamoyl-beta-alanine to beta-alanine, ammonia, and carbon dioxide. Mutations cause beta-ureidopropionase deficiency, an autosomal recessive disorder associated with N-carbamyl-beta-amino aciduria and neurological abnormalities. The gene shows low constraint to loss-of-function variation (pLI near zero), consistent with recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
UPB1 · 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