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The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010],alternative products:Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms,disease:Defects in CSF3R may be a cause of severe congenital neutropenia (SCN) in some patients.,domain:The box 1 motif is required for JAK interaction and/or activation.,domain:The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.,function:Receptor for granulocyte colony-stimulating factor (CSF3). In addition it may function in some adhesion or recognition events at the cell surface.,similarity:Belongs to the type I cytokine receptor family. Type 2 subfamily.,similarity:Contains 1 Ig-like C2-type (immunoglobulin-like) domain.,similarity:Contains 5 fibronectin type-III domains.,subunit:Homodimer. The dimeric receptor binds two CSF3 molecules.,tissue specificity:One or several isoforms have been found in myelogenous leukemia cell line KG-1, leukemia U937 cell line, in bone marrow cells, placenta, and peripheral blood granulocytes. Isoform GCSFR-2 is found only in leukemia U937 cells. Isoform GSCFR-3 is highly expressed in placenta.,

研究领域

Cytokine-cytokine receptor interaction;Jak_STAT;Hematopoietic cell lineage;Pathways in cancer;