rs143493067

This is a splice region variant variant in the UPB1 gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

3-ureidopropionate measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 1.88
p 8.0e-59
N 14,296
Large GWAS
European

serum gamma-glutamyl transferase measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.34
p 7.0e-32
N 355,690
Major Consortium StudyLarge GWAS
multi-ancestry

level of beta-ureidopropionase in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.75
p 1.0e-24
N 47,745
Large GWAS
European
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ClinVar annotation

Pathogenic★★★☆
21 submitters12 publications

Deficiency of beta-ureidopropionase (UPB1D); Inborn genetic diseases; UPB1-related disorder

View on ClinVar →

About UPB1

This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq, Jul 2008]

View all UPB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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