Gene: NR1H3
Alternate names for this Gene: LXR-a|LXRA|RLD-1
Gene Summary: 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.
Gene is located in Chromosome: 11
Location in Chromosome : 11p11.2
Description of this Gene: nuclear receptor subfamily 1 group H member 3
Type of Gene: protein-coding
Gene: MADD
Alternate names for this Gene: DEEAH|DENN|IG20|NEDDISH|RAB3GEP
Gene Summary: Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene.
Gene is located in Chromosome: 11
Location in Chromosome : 11p11.2
Description of this Gene: MAP kinase activating death domain
Type of Gene: protein-coding
rs61731956 in
NR1H3;MADD gene and
Multiple Sclerosis
PMID 27253448 2016 In this study, we describe the identification of NR1H3 p.Arg415Gln in seven MS patients from two multi-incident families presenting severe and progressive disease, with an average age at onset of 34 years.