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Relevance to Autism

Deletion of the Nr1h2 gene in mice resulted in hypoplasia of the dentate gyrus and autistic behaviors, including abnormal social interactions and repetitive behaviors (Cai et al., 2018).

Molecular Function

The NR1H2 gene encodes the liver X receptor LXRB; the liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs) and regulate expression of target genes containing LXR response elements.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Liver X receptor regulates the development of the dentate gyrus and autistic-like behavior in the mouse.
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1009R001 
 missense_variant 
 c.1108G>A 
 p.Ala370Thr 
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Duplication
 1
 
19
Deletion-Duplication
 18
 
19
Duplication
 1
 

No Animal Model Data Available

 

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