功能： catalytic activity:Hydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa.,disease:Defects in ELA2 are a cause of cyclic haematopoiesis (CH) [MIM:162800]; 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.,disease:Defects in ELA2 are the cause of autosomal dominant severe congenital neutropenia type 1 (SCN1) [MIM:202700]. Severe congenital neutropenia is a heterogeneous 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.,function:Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis.,online information:ELA2 mutation db,online information:Elastase entry,similarity:Belongs to the peptidase S1 family. Elastase subfamily.,similarity:Contains 1 peptidase S1 domain.,subunit:Interacts with NOTCH2NL.,tissue specificity:Bone marrow cells.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasmic vesicle, phagosome . Localized in phagolysosomes following ingestion of E.coli by neutrophils. .
组织表达： Bone marrow cells. Neutrophil (PubMed:10947984).
功能： catalytic activity:Hydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa.,disease:Defects in ELA2 are a cause of cyclic haematopoiesis (CH) [MIM:162800]; 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.,disease:Defects in ELA2 are the cause of autosomal dominant severe congenital neutropenia type 1 (SCN1) [MIM:202700]. Severe congenital neutropenia is a heterogeneous 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.,function:Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis.,online information:ELA2 mutation db,online information:Elastase entry,similarity:Belongs to the peptidase S1 family. Elastase subfamily.,similarity:Contains 1 peptidase S1 domain.,subunit:Interacts with NOTCH2NL.,tissue specificity:Bone marrow cells.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasmic vesicle, phagosome . Localized in phagolysosomes following ingestion of E.coli by neutrophils. .
组织表达： Bone marrow cells. Neutrophil (PubMed:10947984).
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