41044-9
UGT1A1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP31870-6 UGT1A1 gene
The UGT1A1 gene (UDP glucuronosyltransferase 1 family, polypeptide A1) [HGNC Gene ID:12530] is located on chromosome 2q37. This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq, Jul 2008] [NCBI Gene ID:54658]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- UGT1A1 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- UGT1A1 gene Mut Anl Bld/T
- Display Name
- UGT1A1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- UGT1A1 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.15
- Last Updated
- Version 2.73
- Change Reason
- Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 13172
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen UGT1A1 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutación dirigida al gen UGT1A1: |
| fr-FR | French (France) | UGT1A1 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | UGT1A1, gene analisi di mutazione mirata: Synonyms: Gene UGT1A1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | UGT1A1 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | UGT1A1-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted UGT1A1 gen |
| pt-BR | Portuguese (Brazil) | UGT1A1 análise de mutação genética: Synonyms: Gilbert Syndrome; |
| ru-RU | Russian (Russian Federation) | UGT1A1 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | UGT1A1 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | UGT1A1 基因 突变分析: Synonyms: Crigler-Najjar 综合征, I 型; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=41044-9
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