LP34968-5
ELA2 gene
Active
Description
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
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- ELA2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-01-03
- Construct for LOINC Short Name
- ELA2 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | ELA2 基因 Synonyms: Medullasin; |
| et-EE | Estonian (Estonia) | ELA2 geen |
| es-ES | Spanish (Spain) | Gen ELA2 |
| it-IT | Italian (Italy) | ELA2, gene Synonyms: Gene ELA2 |
| tr-TR | Turkish (Turkey) | ELA2 geni |
| ru-RU | Russian (Russian Federation) | ELA2 ген |
| nl-NL | Dutch (Netherlands) | ELA2-gen Synonyms: ELA2 gen |
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