| Gene Symbol | EMG1 | 
| Entrez Gene ID | 10436 | 
| Full Name | EMG1, N1-specific pseudouridine methyltransferase | 
| Synonyms | C2F,Grcc2f,NEP1 | 
| General protein information | 
 | 
| Gene Type | protein-coding | 
| Organism | Homo sapiens(human) | 
| Genome | |
| Summary | This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. | 
| Disorder MIM: | |
| Disorder Html: | Bowen-Conradi syndrome, 211180 (3) | 
 
                   
                 
                   
 
                   
                     
                   
                 
                   
                     
                     
                       
                     
                     
                       
                       
                         
			 
			 
			 
			 
			 
			 
			 
			 
			 
			 
             
                     
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
                                     
                                         
                                         User Manual
User Manual
 
                                                                         
       
       
        