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NR1H3

From SNPedia

is agene
is mentioned by
Full namenuclear receptor subfamily 1 group H member 3
EntrezGene10062
PheGenI10062
VariationViewer10062
ClinVarNR1H3
GeneCardsNR1H3
dbSNP10062
SADR10062
HugeNav10062
wikipediaNR1H3
googleNR1H3
gopubmedNR1H3
EVSNR1H3
HEFalMpNR1H3
MyGene2NR1H3
23andMeNR1H3
UniProtQ13133
EnsemblENSG00000025434
OMIM602423
# SNPs10
 Max MagnitudeChromosome positionSummary
rs1083868147,253,513
rs11039155047,259,211
rs1222149747,259,102
rs144962647,269,208
rs144962747,269,433
rs216707947,248,704
rs227923847,260,473
rs375867347,257,366
rs61731956147,268,596
rs712011847,264,739

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 27253448OA-icon.png] 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.