38895-9
ELA2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP34968-5 ELA2 gene
The ELA2 gene (elastase, neutrophil expressed) gene is located on chromosome 19p13.3. Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins. The product of this gene hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix following the protein's release from activated neutrophils. The enzyme may play a role in degenerative and inflammatory diseases by its proteolysis of collagen-IV and elastin of the extracellular matrix. This protein degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is clustered with other serine protease gene family members, azurocidin 1 and proteinase 3 genes, at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, May 2009] [NCBI Gene ID:1991]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- ELA2 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- ELA2 gene Mut Anl Bld/T
- Display Name
- ELA2 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- ELA2 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.15
- 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 ELA2 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen ELA2: |
| fr-FR | French (France) | ELA2 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | ELA2, gene analisi di mutazione mirata: Synonyms: Gene ELA2 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | ELA2 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | ELA2-gen doelgerichte mutatie-analyse: Synonyms: ELA2 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | ELA2 análise de mutação genética: Synonyms: NE; |
| ru-RU | Russian (Russian Federation) | ELA2 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | ELA2 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | ELA2 基因 突变分析: Synonyms: Medullasin; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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