Aliases: LXR-b, LXRB, NER, NER-I, RIP15, UNR
Chromosome No: 19
Chromosome Band: 19q13.33
Genetic Category: Functional-Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 4
Evidence score: 2
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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.
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