NR1H3
| is a | gene |
| is | mentioned by |
| Full name | nuclear receptor subfamily 1 group H member 3 |
| EntrezGene | 10062 |
| PheGenI | 10062 |
| VariationViewer | 10062 |
| ClinVar | NR1H3 |
| GeneCards | NR1H3 |
| dbSNP | 10062 |
| Diseases | NR1H3 |
| SADR | 10062 |
| HugeNav | 10062 |
| wikipedia | NR1H3 |
| NR1H3 | |
| gopubmed | NR1H3 |
| EVS | NR1H3 |
| HEFalMp | NR1H3 |
| MyGene2 | NR1H3 |
| 23andMe | NR1H3 |
| UniProt | Q13133 |
| Ensembl | ENSG00000025434 |
| OMIM | 602423 |
| # SNPs | 10 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs10838681 | 0 | 47,253,513 | |
| rs11039155 | 0 | 47,259,211 | |
| rs12221497 | 0 | 47,259,102 | |
| rs1449626 | 0 | 47,269,208 | |
| rs1449627 | 0 | 47,269,433 | |
| rs2167079 | 0 | 47,248,704 | |
| rs2279238 | 0 | 47,260,473 | |
| rs3758673 | 0 | 47,257,366 | |
| rs61731956 | 1 | 47,268,596 | |
| rs7120118 | 0 | 47,264,739 |
The NR1H3 gene encodes the liver X receptor alpha (LXR-alpha or LXRA) protein, a nuclear receptor protein. Together with LXRB, LXRA forms a subfamily of nuclear receptors that control transcriptional regulation of genes involved in lipid homeostasis, inflammation, and innate immunity.Wikipedia
A rare mutation in the NR1H3 gene, rs61731956, was reported [PMID 27253448
] to be causative for multiple sclerosis and then quite quickly discredited. The authors who reported this hypothesize that at the outset of disease, damage to myelin sheaths in NR1H3 mutation carriers may produce an intensified inflammatory response due to the inability of the innate immune system to suppress the expression of pro-inflammatory mediators, triggering the severe and progressive form of the disease in these patients. Comments in pubmed on the original article and then a replication analysis in a much larger sample collection 10.1101/061366 provide strong evidence that this is not real.
