GENETIC ENCYCLOPEDIA
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gene: CCR5

id1234
symbolCCR5
organismHomo sapiens
full nameC-C motif chemokine receptor 5 (gene/pseudogene)
summaryThis gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. An allelic polymorphism in this gene results in both functional and non-functional alleles; the reference genome represents the functional allele. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2015]
variant-disease

NM_000579.3(CCR5):c.1004C>T (p.Ala335Val) AND CCR5 POLYMORPHISM, AFRICAN-AMERICAN

NM_000579.3(CCR5):c.-301+246A>G AND CCR5 PROMOTER POLYMORPHISM

NM_000579.3(CCR5):c.554_585del (p.Ser185fs) AND Human immunodeficiency virus type 1, susceptibility to

NM_000579.3(CCR5):c.303T>A (p.Cys101Ter) AND Human immunodeficiency virus type 1, susceptibility to

NM_000579.3(CCR5):c.-301+246A>G AND Human immunodeficiency virus type 1, susceptibility to

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