ELANE

Also known as ELA2, GE, HLE, HNE, NE, PMN-E, SCN1, elastase, neutrophil expressed

protein-coding gene in the species Homo sapiens

Gene data

ELANE

Name: elastase, neutrophil expressed
Type: protein-coding
Position: 850,951–856,247 (+)
Aliases: ELA2, GE, HLE, HNE, NE, PMN-E, SCN1
Ensembl: ENSG00000277571
RefSeq RNA: NM_001972.4, XM_054320146.1, XM_054320147.1, XM_054329439.1, XM_054329440.1
RefSeq protein: NP_001963.1, XP_054176121.1, XP_054176122.1, XP_054185414.1, XP_054185415.1

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].