Description
Product Characteristics: The c-Kit receptor consists of an extracellular portion with five immunoglobulin-like regions and an intracellular tyrosine kinase domain. The first three immunoglobulin-like domains form a binding site for its ligand, stem cell factor (SCF), the fourth is involved in c-Kit receptor dimerization, and the function of the fifth is, as yet, unknown. Binding of SCF induces homodimerization of the c-Kit receptor, followed by an increase in receptor autophosphorylation activity and recruitment of the c-Kit signaling complex.
Target Information: This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq, Jul 2008]