LP437608-5
UBA1 gene mutation
Active
Description
UBA1 gene provides instructions for making the ubiquitin-activating enzyme E1. This enzyme is necessary for the ubiquitin-proteasome system, which targets damaged or unneeded proteins to be broken down within cells. Source: Medline Plus,
Basic Part Properties
- Part Name
- UBA1 gene mutation
- Part Display Name
- UBA1 gene mutation
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2023-11-27
- Construct for LOINC Short Name
- UBA1 mut
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Mutación del gen UBA1 |
| fr-FR | French (France) | UBA1 gène mutation |
| pl-PL | Polish (Poland) | UBA1 mutacja genu Synonyms: Mutacja genu UBA1 |
| nl-NL | Dutch (Netherlands) | UBA1-genmutatie |
| it-IT | Italian (Italy) | UBA1, mutazione del gene Synonyms: Mutazione del gene UBA1 |
| el-GR | Greek (Greece) | Μετάλλαξη του γονιδίου UBA1 Synonyms: Μετάλλαξη του γονιδίου UBA1 |
| zh-CN | Chinese (China) | UBA1 基因突变 |
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://