Aliases for ELANE Gene
External Ids for ELANE Gene
Previous HGNC Symbols for ELANE Gene
Previous GeneCards Identifiers for ELANE Gene
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]
GeneCards Summary for ELANE Gene
ELANE (Elastase, Neutrophil Expressed) is a Protein Coding gene. Diseases associated with ELANE include neutropenia, cyclic and neutropenia, severe congenital 1, autosomal dominant. Among its related pathways are amb2 Integrin signaling and Degradation of the extracellular matrix. GO annotations related to this gene include serine-type endopeptidase activity and peptidase activity. An important paralog of this gene is PRTN3.
UniProtKB/Swiss-Prot for ELANE Gene
Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis.