ELANE : elastase, neutrophil expressed
Description
The ELANE (elastase, neutrophil expressed) is a protein-coding gene located on chromosome 19.
The ELANE gene provides instructions for making a protein called neutrophil elastase. This protein is found in neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. When the body starts an immune response to fight an infection, neutrophils release neutrophil elastase. This protein then modifies the function of certain cells and proteins to fight the infection.
Neutrophil elastase, encoded by the ELANE gene, is a serine protease that regulates the activity of natural killer cells, monocytes, and granulocytes. It suppresses C5a-mediated neutrophil enzyme release and chemotaxis (PubMed:15140022). By cleaving GSDMB, it inhibits pyroptosis (PubMed:36899106). In vitro, it can kill E. coli but not S. aureus. ELANE-encoded elastase digests outer membrane protein A (ompA) in E. coli and K. pneumoniae (PubMed:10947984).
ELANE is also known as ELA2, GE, HLE, HNE, NE, PMN-E, SCN1.
Associated Diseases
- Cyclic neutropenia
- Neutropenia, severe congenital, 1, autosomal dominant
- Autosomal dominant severe congenital neutropenia
- Severe congenital neutropenia
