GEPHE SUMMARY
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									Gephebase Gene
					
		
	
									Entry Status
					
		
													Published
					
	
									GepheID
					
		
													GP00000177
					
	
									Main curator
					
		
													Martin
					
	
            		PHENOTYPIC CHANGE
            	            
	                
	
									Trait Category
					
		
	
									Trait State in Taxon A
					
		
													Homo sapiens
					
	
									Trait State in Taxon B
					
		
													Homo sapiens
					
	
									Ancestral State
					
		
													Taxon A
					
	
									Taxonomic Status
					
		
	Taxon A
					
									Latin Name
					
		
	
									Common Name
					
		
																			human
					
	
									Synonyms
					
		
																			human; man; Homo sapiens Linnaeus, 1758; Home sapiens; Homo sampiens; Homo sapeins; Homo sapian; Homo sapians; Homo sapien; Homo sapience; Homo sapiense; Homo sapients; Homo sapines; Homo spaiens; Homo spiens; Humo sapiens
					
	
									Rank
					
		
																			species
					
	
		Lineage
	
	
															
				Show more ... 
						opterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
			
			
							Parent
					
		
	
							NCBI Taxonomy ID
					
		
	
									is Taxon A an Infraspecies?
					
		
																													No
					
	Taxon B
					
									Latin Name
					
		
	
									Common Name
					
		
																			human
					
	
									Synonyms
					
		
																			human; man; Homo sapiens Linnaeus, 1758; Home sapiens; Homo sampiens; Homo sapeins; Homo sapian; Homo sapians; Homo sapien; Homo sapience; Homo sapiense; Homo sapients; Homo sapines; Homo spaiens; Homo spiens; Humo sapiens
					
	
									Rank
					
		
																			species
					
	
		Lineage
	
	
															
				Show more ... 
						opterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
			
			
							Parent
					
		
	
							NCBI Taxonomy ID
					
		
	
									is Taxon B an Infraspecies?
					
		
																													No
					
	
            GENOTYPIC CHANGE
            	            
	                
	
									Generic Gene Name
					
		
																			CCL3L1
					
	
									Synonyms
					
		
																			LD78; 464.2; SCYA3L; G0S19-2; SCYA3L1; D17S1718; LD78BETA
					
	
									String
					
		
	
									Sequence Similarities
					
		
																			Belongs to the intercrine beta (chemokine CC) family.
					
	
							GO - Molecular Function
						
						
																														GO:0048020 : CCR chemokine receptor binding
							
									 ... show more
										
																					
					
							GO - Biological Process
						
						
					
							GO - Cellular Component
						
						
																														GO:0005576 : extracellular region
							
									 ... show more
										
																					
					
									Presumptive Null
					
		
	
									Molecular Type
					
		
	
									Aberration Type
					
		
	
									Indel Size
					
		
													unknown
					
	
									Molecular Details of the Mutation
					
		
													Copy number Variant
					
	
									Experimental Evidence
					
		
	
				Main Reference
	
	
				Authors
	
	
									Gonzalez E; Kulkarni H; Bolivar H; Mangano A; Sanchez R; Catano G; Nibbs RJ; Freedman BI; et al.
									
					... show more
										
							Abstract
					
		
																			Segmental duplications in the human genome are selectively enriched for genes involved in immunity, although the phenotypic consequences for host defense are unknown. We show that there are significant interindividual and interpopulation differences in the copy number of a segmental duplication encompassing the gene encoding CCL3L1 (MIP-1alphaP), a potent human immunodeficiency virus-1 (HIV-1)-suppressive chemokine and ligand for the HIV coreceptor CCR5. Possession of a CCL3L1 copy number lower than the population average is associated with markedly enhanced HIV/acquired immunodeficiency syndrome (AIDS) susceptibility. This susceptibility is even greater in individuals who also possess disease-accelerating CCR5 genotypes. This relationship between CCL3L1 dose and altered HIV/AIDS susceptibility points to a central role for CCL3L1 in HIV/AIDS pathogenesis and indicates that differences in the dose of immune response genes may constitute a genetic basis for variable responses to infectious diseases.
					
	
				Additional References
	
	
            RELATED GEPHE
        
	
								Related Haplotypes
					
					
													No matches found.
											
				
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