38406-5
PABPN1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
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Part Description
LP33175-8 PABPN1 gene
The PABPN1 gene (poly(A) binding protein, nuclear 1) [HGNC Gene ID:8565] is located on chromosome 14q11.2. This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010] [NCBI Gene ID:8106]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- PABPN1 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- PABPN1 gene Mut Anl Bld/T
- Display Name
- PABPN1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- PABPN1 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.14
- Last Updated
- Version 2.66
- 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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-AR | Spanish (Argentina) | gen PABPN1: |
| es-ES | Spanish (Spain) | Gen PABPN1 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutación dirigida al gen PABPN1: |
| fr-FR | French (France) | PABPN1 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | PABPN1, gene analisi di mutazione mirata: Synonyms: Gene PABPN1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | PABPN1 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | PABPN1-gen doelgerichte mutatie-analyse: Synonyms: molgen PABPN1 gen targeted |
| pt-BR | Portuguese (Brazil) | PAcPN1 análise de mutação genética: Synonyms: OPMD; |
| ru-RU | Russian (Russian Federation) | PABPN1 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | PABPN1 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | PABPN1 基因 突变分析: Synonyms: OPMD; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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