NR1H3 Chromosome 11
Nuclear receptor subfamily 1 group H member 3
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What This Gene Does
The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
Nuclear receptor subfamily 1 group H
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000025434
Associated Conditions (1)
Multiple sclerosis
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS61731956 | Health Risk | Pathogenic | Multiple sclerosis, Multiple sclerosis |