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  Domain Name: Ig4_SCFR_like
Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR) and similar proteins. Ig4_SCFR_like; fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR). In addition to SCFR this group also includes the fourth Ig domain of platelet-derived growth factor receptors (PDGFR), alpha and beta, the fourth Ig domain of macrophage colony stimulating factor (M-CSF), and the Ig domain of the receptor tyrosine kinase KIT. SCFR and the PDGFR alpha and beta have similar organization: an extracellular component having five Ig-like domains, a transmembrane segment, and a cytoplasmic portion having protein tyrosine kinase activity. SCFR and its ligand SCF are critical for normal hematopoiesis, mast cell development, melanocytes and gametogenesis. SCF binds to the second and third Ig-like domains of SCFR, this fourth Ig-like domain participates in SCFR dimerization, which follows ligand binding. Deletion of this fourth SCFR_Ig-like domain abolishes the ligand-induced dimerization of SCFR and completely inhibits signal transduction. PDGF is a potent mitogen for connective tissue cells. PDGF-stimulated processes are mediated by three different PDGFs (PDGF-A,-B, and C). PDGFR alpha binds to all three PDGFs, whereas the PDGFR beta, binds only to PDGF-B. In mice, PDGFR alpha, and PDGFR beta, are essential for normal development.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 3
Total Disease Mutations Found: 1
This domain occurred 8 times on human genes (16 proteins).



  VARIANT OF UNKNOWN SIGNIFICANCE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
dimerization interface










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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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