35304-5
CLA2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP33153-5 CLA2 gene
The CLA2 gene (ATPase, Ca++ transporting, plasma membrane 3) gene is located on chromosome Xq28. The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] [NCBI Gene ID:492]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- CLA2 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- CLA2 gene Mut Anl Bld/T
- Display Name
- CLA2 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- CLA2 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.13
- 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 CLA2 Analisis de mutaciones: |
| es-AR | Spanish (Argentina) | gen CLA2: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen CLA2: |
| fr-FR | French (France) | CLA2 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | CLA2, gene analisi di mutazione mirata: Synonyms: Gene CLA2 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | CLA2 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | CLA2-gen doelgerichte mutatie-analyse: Synonyms: CLA2 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | CLA2 análise de mutação genética: Synonyms: OPCA; |
| ru-RU | Russian (Russian Federation) | CLA2 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | CLA2 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | CLA2 基因 突变分析: Synonyms: OPCA; |
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=35304-5
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