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Details of UPB1 gene in Homo sapiens
Disease |
|---|
| Disease |
OMIM id |
| Beta-ureidopropionase deficiency (BUPD) [MIM:613161]: An inborn error of metabolism due to a defect in pyrimidine degradation. It is characterized by muscular hypotonia, dystonic movements, scoliosis, microcephaly and severe developmental delay. Patients show strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine. Note=The disease is caused by mutations affecting the gene represented in this entry. |
613161 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
| Upb1 | pyd3 | upb-1 | Sp-Upb1 |
