C-Kit Somatic Mutation - exon 11
        
            Breeds
        
    
    
                
                Relevance Rating: There is some evidence or research available  in this breed 
                
            
            
        
        General
        
            Disease Name
        
    
    
            C-Kit Somatic Mutation - exon 11
            
        
        
        
            OMIA
        
    
    
            -61
            
        
        
        
            Gene Name
        
    
    
            c-kit
            
        
        
        
            Mutation
        
    
    
            internal tandem duplication (ITD), insertions and deletions
            
        
        
        
            Test Type
        
    
    
            Diagnostic Tool
            
        
        
        
            Details
        
    
    
            All mast cells require a tyrosine kinase receptor called c-kit, (also known as stem cell factor (SCF) receptor), which is a protein on the membrane of the cell, to survive. SCF is a growth factor for blood cells and therefore stimulates production of various types of blood cells. In some mast cell tumors, a mutation in the gene that codes for the c-kit receptor can occur that results in production of a receptor that is always activated which can result in mast cell tumors developing in dogs. Currently you can find testing options for the most common exon 11, but also testing options that include multiple exons: 11, 8, 9, 17. You can view exon/mutation information under phenes C-Kit 8, C-Kit 9, and C-Kit 17
            
        
        
        
            Published 2
        
    
    
        
            Published 3
        
    
    
        
            Body/System/Process
        
    
    
            Multisystem
            
        
        
        
            Inheritance
        
    
    
            TBC
            
        
        
        
            Phene Discovery
        
    
    
            TBC
            
        
        
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