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A DNA sequence encoding the signal peptide and extracellular domain of human SCF R (aa 1-520) was fused to the Fc region of human IgG1 (aa 93-330). The chimeric protein was expressed in modified human 293 cells.

Stem cell factor receptor (SCF R), also known as c-kit, has a molecular weight of 145 kDa as a mature protein and is a member of the type III receptor tyrosine kinase (RTK) family that includes platelet-derived growth factor (PDGF) receptors and the macrophage colony-stimulating factor 1 (CSF-1) (c-fms) receptor. SCF R is essential for the development of normal hematopoietic cells and plays an important role in the survival, proliferation, and differentiation of mast cells, melanocytes, and germ cells. It is expressed by hematopoietic cells in the embryonic liver throughout development, and by more committed progenitors, such as myeloid, erythroid, megakaryocytic, natural killer, and dendritic progenitor cells. SCF R contains five extracellular immunoglobulin-like (Ig) domains, a single juxtamembrane domain (JMD), a cytoplasmic tyrosine kinase domain interrupted by a large kinase insert (KI) in the ATP-binging region, and a carboxy tail. Binding of SCF R to its ligand (stem cell factor; SCF) induces receptor dimerization, trans autophosphorylation of the kinase domain, recruitment of signaling proteins via phosphotyrosine binding or Src homology 2 (SH2) domains, and subsequent signal transduction. A variety of human diseases are associated with the inappropriate expression or activation of SCF R, which can be classified as loss-of-function mutations or gain-of-function mutations. Activating mutations in SCF R have been primarily identified in the JMD and in the second part of the kinase domain, and are associated with gastrointestinal stromal cell tumors and mastocytosis, respectively. There are also reports of activating mutations in some forms of germ cell tumors. The overexpression of SCF R has previously been documented in myeloid leukemia, neuroblastoma, breast tumor, colon tumors, gynecological tumors, testicular germ cell tumors and small cell lung carcinoma (SCLC). Loss-of-function mutations in SCF R can result in diseases such as autosomal-dominant piebaldism, leading to deafness, megacolon, and abnormalities in pigmentation of skin and hair. For a recent review please refer to Roskoski, R. Jr,. (2005) Biochem. Biophys. Rec. Commun. 338(3):1307-1315.