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 structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active protease. Following activation, this protease hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix. The enzyme may play a role in degenerative and inflammatory diseases through proteolysis of collagen-IV and elastin. This protein also 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 present in a gene cluster on chromosome 19. [provided by RefSeq, Jan 2016]
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 Cell adhesion_Cell-matrix glycoconjugates and Immune System. 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.