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UPB1

Synonyms
BUP1
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
51
Likely pathogenic
0
VUS
1,332
Likely benign
2,693
Benign
43

Patient phenotypes

Proportions of phenotypes among 50 patients carrying pathogenic or likely pathogenic variants on UPB1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of the musculoskeletal system
30%
Abnormality of the eye
24%
Abnormality of the integument
16%
Abnormality of the cardiovascular system
14%
Abnormality of head or neck
12%
Abnormality of the genitourinary system
12%
Growth abnormality
12%
Abnormality of limbs
10%
Abnormality of the digestive system
10%
Abnormality of the ear
6%
Abnormality of the endocrine system
4%
Constitutional symptom
4%
Abnormality of blood and blood-forming tissues
2%
Abnormality of the breast
2%
Neoplasm
2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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