UPB1 Chromosome 22
Beta-ureidopropionase 1
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What This Gene Does
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]
Associated Conditions (7)
Deficiency of beta-ureidopropionase
Inborn genetic diseases
UPB1-related disorder
Clear cell carcinoma of kidney
Cervical cancer
Malignant tumor of esophagus
Hepatocellular carcinoma
Key Variants
RS1176402115
Conflicting classifications of pathogenicity
Deficiency of beta-ureidopropionase, Inborn genetic diseases, Deficiency of beta-ureidopropionase
Health Risk
RS118163237
Conflicting classifications of pathogenicity
Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
Health Risk
RS138872001
Conflicting classifications of pathogenicity
Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
Health Risk
RS145368798
Conflicting classifications of pathogenicity
Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
Health Risk
RS145749836
Conflicting classifications of pathogenicity
Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
Health Risk
RS145766755
Conflicting classifications of pathogenicity
Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
Health Risk
RS149187760
Conflicting classifications of pathogenicity
Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
Health Risk
RS150740488
Conflicting classifications of pathogenicity
Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
Health Risk
RS185719774
Conflicting classifications of pathogenicity
Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
Health Risk
RS199788632
Conflicting classifications of pathogenicity
Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
Health Risk
RS200145797
Conflicting classifications of pathogenicity
Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
Health Risk
RS200161281
Conflicting classifications of pathogenicity
Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1176402115 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Inborn genetic diseases, Deficiency of beta-ureidopropionase |
| RS118163237 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS138872001 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS145368798 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS145749836 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS145766755 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS149187760 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS150740488 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS185719774 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS199788632 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS200145797 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS200161281 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS200688546 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Inborn genetic diseases, Deficiency of beta-ureidopropionase |
| RS202171848 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS34035085 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS368034969 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS753638837 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755693951 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS770091394 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS773774550 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS1012254852 | Health Risk | Likely pathogenic | Deficiency of beta-ureidopropionase, UPB1-related disorder, Deficiency of beta-ureidopropionase |
| RS1019345080 | Health Risk | Likely pathogenic | — |
| RS1458458354 | Health Risk | Likely pathogenic | — |
| RS747454154 | Health Risk | Likely pathogenic | — |
| RS765062693 | Health Risk | Likely pathogenic | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS770644036 | Health Risk | Likely pathogenic | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS1296034492 | Health Risk | Pathogenic | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS140157113 | Health Risk | Pathogenic | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS1568979622 | Health Risk | Pathogenic | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS2044271397 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2147029623 | Health Risk | Pathogenic | — |
| RS2147041278 | Health Risk | Pathogenic | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS2517955128 | Health Risk | Pathogenic | — |
| RS756272200 | Health Risk | Pathogenic | — |
| RS760607228 | Health Risk | Pathogenic | — |
| RS772212502 | Health Risk | Pathogenic | Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase |
| RS138081800 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of beta-ureidopropionase, Inborn genetic diseases, UPB1-related disorder |
| RS143493067 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of beta-ureidopropionase, Inborn genetic diseases, UPB1-related disorder |
| RS747539101 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of beta-ureidopropionase, Hepatocellular carcinoma, Deficiency of beta-ureidopropionase |