ELANE

Serine protease that modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis (PubMed:15140022). Promotes cleavage of GSDMB, thereby inhibiting pyroptosis (PubMed:36899106). Promotes blood coagulation (PubMed:20676107). Through the activation of the platelet fibrinogen receptor integrin alpha-IIb/beta-3, potentiates platelet aggregation induced by a threshold concentration of cathepsin G (CTSG) (PubMed:25211214, PubMed:9111081). Cleaves and thus inactivates tissue factor pathway inhibitor (TFPI) (PubMed:20676107, PubMed:25211214). Capable of killing E.coli but not S.aureus in vitro; digests outer membrane protein A (ompA) in E.coli and K.pneumoniae (PubMed:10947984).

Cyclic haematopoiesis

CH

Autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk for opportunistic infection. Monocytes, platelets, lymphocytes and reticulocytes also cycle with the same frequency.

None

The disease is caused by variants affecting the gene represented in this entry.

Neutropenia, severe congenital 1, autosomal dominant

SCN1

A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the peptidase S1 family. Elastase subfamily.

Bone marrow cells. Neutrophil (PubMed:10947984).

• Cytoplasmic vesicle
• Phagosome
• Localized in phagolysosomes following ingestion of E.coli by neutrophils.

ELA2, ELANE, Neutrophil elastase, Bone marrow serine protease, Elastase-2, Human leukocyte elastase, Medullasin, PMN elastase, HLE

• entrezGene:1991
• omim:130130
• swissprot:P08246

Proteins

Immunology & Infectious Disease

28518Da