| Gene Symbol | LAMTOR2 | 
| Entrez Gene ID | 28956 | 
| Full Name | late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 | 
| Synonyms | ENDAP,HSPC003,MAPBPIP,MAPKSP1AP,ROBLD3,Ragulator2,p14 | 
| General protein information | 
                                                        
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| Gene Type | protein-coding | 
| Organism | Homo sapiens(human) | 
| Genome | |
| Summary | The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]. | 
| Disorder MIM: | |
| Disorder Html: | Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3) | 
                   
                 
                  
 
                  
                    
                   
                 
                  
                    
                    
                      
                    
                    
			
			
			
			
			
			
			
			
			
			
            
                    
              
              
              
              
              
              
              
              
              
              
              
              
              
              
              
              
              
                                    
                                        
                                        
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