Aliases: CCRL1, CMKBRL1, CMKDR1, GPR13, GPRV28, V28
Chromosome No: 3
Chromosome Band: 3p22.2
Genetic Category: Functional-Rare single gene variant/genetic association-Rare single gene variant
ASD Reports: 4
Recent Reports: 1
Annotated variants: 9
Associated CNVs: 1
Evidence score: 2
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Relevance to Autism
Mice lacking the chemokine receptor Cx3cr1 exhibit a transient reduction of microglia during the early postnatal period and a consequent deficit in synaptic pruning, which in turn is associated with weak synaptic transmission, decreased functional brain connectivity, deficits in social interaction and increased repetitive-behavior phenotypes that have been previously associated with autism and other neurodevelopmental and neuropsychiatric disorders (Zhan et al., 2014). Targeted resequencing of the CX3CR1 gene in 370 Japanese schizophrenia and 192 ASD patients identified several rare missense variants, including a missense variant (p.Ala55Thr) in one ASD proband and one schizophrenia proband that inhibited fractakline-induced phosporylation of Akt in transfected cells (Ishizuka et al., 2017). Furthermore, an independent genetic association study in a sample consisting of 2653 Japanese schizophrenia cases, 574 Japanese ASD cases, and 3827 ethnically-matched controls demonstrated that the CX3CR1 p.Ala55Thr missense variant associated with both ASD (Odds ratio 13.3 [1.04-Inf], P=0.0047) and schizophrenia (Odds ratio 7.2 [1.04-Inf], P=0.045).
Molecular Function
Receptor for the CX3C chemokine fractalkine and mediates both its adhesive and migratory functions. Expressed in lymphoid and neural tissues.
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