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The official name of this gene is “chemokine (C-C motif) receptor 5 (gene/pseudogene).”
CCR5 is the gene's official symbol. The CCR5 gene is also known by other names, listed below.
This 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]
Receptor for a number of inflammatory CC-chemokines including MIP-1-alpha, MIP-1-beta and RANTES and subsequently transduces a signal by increasing the intracellular calcium ion level. May play a role in the control of granulocytic lineage proliferation or differentiation. Acts as a coreceptor (CD4 being the primary receptor) for HIV-1 R5 isolates.(Microbial infection) Acts as a receptor for human immunodeficiency virus-1/HIV-1.
Diabetes mellitus, insulin-dependent, 22 (IDDM22): A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Disease susceptibility is associated with variations affecting the gene represented in this entry.
|612522 (http://omim.org/entry/612522)||DIABETES MELLITUS, INSULIN-DEPENDENT, 22|
|609532 (http://omim.org/entry/609532)||HEPATITIS C VIRUS, SUSCEPTIBILITY TO|
|610379 (http://omim.org/entry/610379)||WEST NILE VIRUS, SUSCEPTIBILITY TO|
|601373 (http://omim.org/entry/601373)||CHEMOKINE, CC MOTIF, RECEPTOR 5|
Cytogenetic Location: 3p21.31
Molecular Location on chromosome 3: base pairs 46,370,142 to 46,376,206
The CCR5 gene is located on the short (p) arm of chromosome 3 at position 21.31.
More precisely, the CCR5 gene is located from base pair 46,370,142 to base pair 46,376,206 on chromosome 3.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about CCR5 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
allele ; calcium ; cell ; diabetes ; diabetes mellitus ; differentiation ; expressed ; gene ; genome ; glucose ; hepatitis ; HIV ; homeostasis ; hyperglycemia ; immunodeficiency ; infection ; insulin ; intracellular ; lineage ; macrophage ; monocyte ; polydipsia ; polymorphism ; polyphagia ; polyuria ; proliferation ; protein ; receptor ; susceptibility ; transcript ; transmembrane ; virus
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.