LP201761-6
Beta-ureidopropionase
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Description
Beta-ureidopropionase [UniProt: Q9UBR1] is an enzyme involved in beta-alanine biosynthesis. It is encoded by the UPB1 gene [HGNC Gene ID: 16297]. Mutations in this gene cause beta-ureidopropionase deficiency (BUPD), an inborn error of metabolism characterized by muscular hypotonia, dystonic movements, scoliosis, microcephaly and severe developmental delay.[OMIM: 613161] Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- Beta-ureidopropionase
- Part Display Name
- Beta-ureidopropionase
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-10-27
- Construct for LOINC Short Name
- Beta-ureidopropionase
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | Beta-脲酰丙酸酶 Synonyms: β-尿酰丙酸酶 |
| es-ES | Spanish (Spain) | Beta-ureidopropionasa |
| it-IT | Italian (Italy) | Beta-ureidopropionase |
| nl-NL | Dutch (Netherlands) | bèta-ureidopropionase Synonyms: beta-ureidopropionase |
| fr-FR | French (France) | Bêta-uréidopropionase |
| pl-PL | Polish (Poland) | Beta-ureidopropionaza |
| el-GR | Greek (Greece) | β-ουρεϊδοπροπιονάση Synonyms: β-ουρεϊδοπροπιονάση |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://