ELA2 Antibody – Mouse Monoclonal

ELANE: Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis. Defects in ELANE are a cause of cyclic haematopoiesis (CH); also known as cyclic neutropenia. CH is an 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. Defects in ELANE are the cause of neutropenia severe congenital autosomal dominant type 1 (SCN1). SCN1 is a disorder of hematopoiesis characterized by a 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. Belongs to the peptidase S1 family. Elastase subfamily.

Protein type: Cell surface; Motility/polarity/chemotaxis; EC 3.4.21.37; Cell cycle regulation; Protease

Chromosomal Location of Human Ortholog: 19p13.3

Cellular Component: cell surface; transcriptional repressor complex; cytoplasm; extracellular region; secretory granule

Molecular Function: peptidase activity; heparin binding; protein binding; protease binding; cytokine binding; serine-type endopeptidase activity; endopeptidase activity

Biological Process: positive regulation of immune response; extracellular matrix organization and biogenesis; positive regulation of smooth muscle cell proliferation; negative regulation of interleukin-8 biosynthetic process; positive regulation of interleukin-8 biosynthetic process; response to lipopolysaccharide; negative regulation of transcription from RNA polymerase II promoter; negative regulation of chemotaxis; proteolysis; phagocytosis; cellular calcium ion homeostasis; positive regulation of MAP kinase activity; extracellular matrix disassembly; collagen catabolic process; negative regulation of inflammatory response; defense response to bacterium; protein catabolic process; response to yeast; leukocyte migration; response to UV; negative regulation of chemokine biosynthetic process; acute inflammatory response to antigenic stimulus

Disease: Cyclic Neutropenia; Neutropenia, Severe Congenital, 1, Autosomal Dominant