ELA2: The gene encoding the enzyme elastase 2 (neutrophilic elastase). Mutations in ELA2 cause cyclic neutropenia.
See: Elastase 2.ELA2: Mutations in the neutrophil elastase gene, ELA2, are the most common cause of SCN, as well as of cyclic neutropenia. ELA2 maps to 19p13.31 and mutations in the ELA2 ...
Alternate Names: bone marrow serine protease; granulocyte-derived elastase; leukocyte elastase; medullasin; neutrophil elastase; polymorphonuclear ...
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Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2
Severe congenital neutropenia (SCN) is an inborn disorder of granulopoiesis. Mutations of the ELA2 gene encoding neutrophil elastase (NE) are responsible for most cases ...