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CX3CR1

CX3CR1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the CX3CR1 gene?

The official name of this gene is “chemokine (C-X3-C motif) receptor 1.”

CX3CR1 is the gene's official symbol. The CX3CR1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the CX3CR1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

Fractalkine is a transmembrane protein and chemokine involved in the adhesion and migration of leukocytes. The protein encoded by this gene is a receptor for fractalkine. The encoded protein also is a coreceptor for HIV-1, and some variations in this gene lead to increased susceptibility to HIV-1 infection and rapid progression to AIDS. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Receptor for the CX3C chemokine fractalkine and mediates both its adhesive and migratory functions. Acts as coreceptor with CD4 for HIV-1 virus envelope protein (in vitro). Isoform 2 and isoform 3 seem to be more potent HIV-1 coreceptors than isoform 1.

How are changes in the CX3CR1 gene related to health conditions?

Genetics Home Reference provides information about age-related macular degeneration, which is associated with changes in the CX3CR1 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the CX3CR1 gene's known or predicted involvement in human disease.

Macular degeneration, age-related, 12 (ARMD12): A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.[1]This link leads to a site outside Genetics Home Reference. Disease susceptibility is associated with variations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CX3CR1 gene.
  • Age-related macular degeneration 12[1]This link leads to a site outside Genetics Home Reference.
  • Congenital human immunodeficiency virus[2]This link leads to a site outside Genetics Home Reference.
  • Coronary heart disease 1[3]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]
[2]
[3]

Where is the CX3CR1 gene located?

Cytogenetic Location: 3p21.3

Molecular Location on chromosome 3: base pairs 39,263,493 to 39,281,734

The CX3CR1 gene is located on the short (p) arm of chromosome 3 at position 21.3.

The CX3CR1 gene is located on the short (p) arm of chromosome 3 at position 21.3.

More precisely, the CX3CR1 gene is located from base pair 39,263,493 to base pair 39,281,734 on chromosome 3.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about CX3CR1?

You and your healthcare professional may find the following resources about CX3CR1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CX3CR1 gene or gene products?

  • CCRL1
  • CMKBRL1
  • CMKDR1
  • GPR13
  • GPRV28
  • V28

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding CX3CR1?

AIDS ; congenital ; coronary ; coronary heart disease ; epithelium ; gene ; HIV ; immunodeficiency ; infection ; in vitro ; isoforms ; lipid ; pigment ; progression ; protein ; receptor ; susceptibility ; transcript ; transmembrane ; virus

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

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? in the Handbook.

 
Published: October 27, 2014