CX3CL1
Chr 16C-X3-C motif chemokine ligand 1
Also known as: ABCD-3, C3Xkine, CXC3, CXC3C, NTN, NTT, SCYD1, fractalkine
This gene belongs to the CX3C subgroup of chemokines, characterized by the number of amino acids located between the conserved cysteine residues. This is the only member of the CX3C subgroup, which contains three amino acids between cysteine residues, resulting in a Cys-X-X-X-Cys configuration. The encoded protein contains an extended mucin-like stalk with a chemokine domain on top, and exists in both a membrane-anchored form where it acts as a binding molecule, or, in soluble form, as a chemotactic cytokine. The mature form of this protein can be cleaved at the cell surface, yielding different soluble forms that can interact with the G-protein coupled receptor, C-X3-C motif chemokine receptor 1 gene product. This gene plays a role in a wide range of diseases, including cancer, vasculitis, neuropathies, atherosclerosis, inflammatory diseases, and in human immunodeficiency virus infections. [provided by RefSeq, Sep 2017]
Clinical highlights
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CX3CL1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome
NOT YET RECRUITINGHuman Milk Oligosaccharides (HMOs) and Gut Microbiota, Immune System in Antarctica
ENROLLING BY INVITATIONNTI164 in Autism Spectrum Disorder
NOT YET RECRUITINGDietary Supplementation With Blueberry in OA
ACTIVE NOT RECRUITINGCharacterization of Microbiological and Genetic Features in Prostate Cancer and Their Association with Disease Stage
ENROLLING BY INVITATIONPredictive Factors for CNS Metastases in Early Breast Cancer Using Liquid Biopsy (AKRA CŽS)
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools