35744-2
TP73L gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP33342-4 TP73L gene
The TP73L gene (tumor protein p63) gene is located on chromosome 3q28. This gene encodes a member of the p53 family of transcription factors. An animal model, p63 -/- mice, has been useful in defining the role this protein plays in the development and maintenance of stratified epithelial tissues. p63 -/- mice have several developmental defects which include the lack of limbs and other tissues, such as teeth and mammary glands, which develop as a result of interactions between mesenchyme and epithelium. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. Both alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different proteins. Many transcripts encoding different proteins have been reported but the biological validity and the full-length nature of these variants have not been determined. [provided by RefSeq, Jul 2008] [NCBI Gene ID:8626]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- TP73L gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- TP73L gene Mut Anl Bld/T
- Display Name
- TP73L gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- TP73L gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.13
- Last Updated
- Version 2.68
- 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 TP73L Analisis de mutaciones: |
| es-AR | Spanish (Argentina) | gen TP73L: |
| es-MX | Spanish (Mexico) | Análisis de mutación dirigida al gen TP73L: |
| fr-FR | French (France) | TP73L gène mutation cible trouvée: |
| it-IT | Italian (Italy) | TP73L, gene analisi di mutazione mirata: Synonyms: Gene TP73L Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | TP73L 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | TP73L-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted TP73L gen |
| pt-BR | Portuguese (Brazil) | TP73L análise de mutação genética: Synonyms: Tumor protein p73-like gene; |
| ru-RU | Russian (Russian Federation) | TP73L ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | TP73L geni Mutasyon analizi: |
| zh-CN | Chinese (China) | TP73L 基因 突变分析: Synonyms: Ectrodactyly, ectodermal dysplasia, and cleft palate syndrome; |
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=35744-2
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