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FLASH GENE

Symbol

CX3CR1

contributors: shn/npt/pgu - updated : 28-09-2020

HGNC name	chemokine (C-X3-C motif) receptor 1
HGNC id	2558

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in airway smooth muscle, lung endothelium and epithelium upon allergen challenge, in people with asthma constitutional       loss of function fractalkine signaling (CX3CL1/ CX3CR1) is deficient in the vulnerable regions of Alzheimer brains

Susceptibility

to coronary artery disease to brain infarction to age-related macular degeneration to autism spectrum disorder to HIV-1 infection and rapid progression to AIDS

Variant & Polymorphism other	rapid progression of AIDS in HIV+ (Omim: 609423)
	individuals homozygous for CXRCR1 (haplotype I249M280)
	polymorphisms modulating its adhesive and signaling functions, associated with reduced risk of atherosclerotic cardiovascular disease(I249M)
	I249 and M280 alleles were associated with an increased risk of brain infarction
	prevalence of T280M polymorphism associated with retinal vasculitis in UK patients
	polymorphisms increasing the risk of age-related macular degeneration

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed allergy asthm   CX3CR1 and CX3CL1 may represent attractive therapeutic targets in asthma cancer metastases   CX3CL1-CX3CR1 axis may be a novel target for the therapeutic intervention of bone resorbing diseases such as cancer bone metastasis osteoarticular bone ostéoporosis CX3CL1-CX3CR1 axis may be a novel target for the therapeutic intervention of bone resorbing diseases such as rheumatoid arthritis, osteoporosis neurology neurodegenerative   CX3CL1/CX3CR1 communication system is a therapeutic target for amyotrophic lateral sclerosis (ALS)patients neurosensorial visual degenerative CX3CL1-CX3CR1 signaling is a molecular mechanism capable of modulating microglial-mediated degeneration and represents a potential molecular target in therapeutic approaches to RP

ANIMAL & CELL MODELS

	CX3CR1(-/-) mice have a significant reduction in macrophage recruitment to the vessel wall and decreased atherosclerotic lesion formation
	Retinal microglial density, distribution, cellular morphology, and overall retinal tissue anatomy were not altered in young CX3CR1(-/-) mice
	deleting CX3CR1 in hAPP mice increased expression of inflammatory factors, such as TNF and IL6, and exacerbated plaque-independent neuronal dysfunction and cognitive deficits
	in Cx3cr1-deficient (CX3CR1(GFP/GFP) ) rd10 mice microglial infiltration into the photoreceptor layer was significantly augmented and associated with accelerated photoreceptor apoptosis and atrophy