21715-8
MXI1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP19745-6 MXI1 gene
The MXI1 gene (MAX interactor 1, dimerization protein) [HGNC Gene ID:7534] is located on chromosome 10q24-q25. Expression of the c-myc gene, which produces an oncogenic transcription factor, is tightly regulated in normal cells but is frequently deregulated in human cancers. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate MYC function, and is therefore a potential tumor suppressor. This protein inhibits the transcriptional activity of MYC by competing for MAX, another basic helix-loop-helix protein that binds to MYC and is required for its function. Defects in this gene are frequently found in patients with prostate tumors. Three alternatively spliced transcripts encoding different isoforms have been described. Additional alternatively spliced transcripts may exist but the products of these transcripts have not been verified experimentally. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4601]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- MXI1 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- MXI1 gene Mut Anl Bld/T
- Display Name
- MXI1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- MXI1 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0m
- Last Updated
- Version 2.63
- 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
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen MXI1 Analisis de mutaciones: |
| es-AR | Spanish (Argentina) | análisis de mutación del gen MXI1: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen MXI1: |
| fr-FR | French (France) | MXI1 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | MXI1, gene analisi di mutazione mirata: Synonyms: Gene MXI1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | MXI1 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | MXI1-gen doelgerichte mutatie-analyse: Synonyms: molgen MXI1 gen targeted |
| pt-BR | Portuguese (Brazil) | MXI1 análise de mutação genética: Synonyms: Prostate cancer; |
| ru-RU | Russian (Russian Federation) | MXI1 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | MXI1 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | MXI1 基因 突变分析: Synonyms: MAD2; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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