Elastase, neutrophil expressed (ELANE)

The elastase, neutrophil expressed gene (ELANE) encodes neutrophil elastase, a serine protease primarily expressed in neutrophils, which plays central roles in innate immune defense, inflammation, and tissue remodeling[2][4][5]. The enzyme degrades various extracellular matrix proteins (including elastin and collagen), bacterial virulence factors, and contributes to the formation of neutrophil extracellular traps (NETs) by histone cleavage[2]. Mutations in ELANE are a leading cause of both severe congenital neutropenia (SCN) and cyclic neutropenia, likely through misfolded protein-induced toxicity and aberrant apoptosis of developing neutrophils, resulting in chronic or recurrent neutrophil deficiency and high susceptibility to infections[1][3][5][7]. ELANE mutations do not describe a distinct “mutant ELANE gene” as a target; rather, disease relevance lies in specific pathogenic mutations of ELANE[1][3][7]. Note: - There is no formal entity called "mutant ELANE gene"—the standard nomenclature is “elastase, neutrophil expressed” (or the abbreviated ELANE). “Mutant ELANE gene” is an imprecise term and may refer to any pathogenic variant of ELANE. It is not a unique canonical entry, so **is_incorrect: true**[1][3][4][5]. - ELANE itself is not a receptor, transporter, or signaling molecule, but a secreted serine protease (enzyme) whose pathogenic mutant forms are associated with neutropenia syndromes[1][2][3][5]. - Drugs do not interact directly with the gene but may target the consequences of its mutation (e.g., stimulating neutrophil production)[3][7].

Other names

elastase-2ELA2neutrophil elastaseleukocyte elastasemedullasinPMN elastasepolymorphonuclear leukocyte elastasegranulocyte elastaseHLEHNENESCN1bone marrow serine proteaseELNE_HUMAN[4][5]

Stimulation of neutrophil production/maturation (G-CSF agonists); modulators of unfolded protein response; correction of aberrant neutrophil elastase function[3][7]