NR1H3 (Nuclear Receptor Subfamily 1 Group H Member 3)

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NR1H3 (Nuclear Receptor Subfamily 1 Group H Member 3) gene encodes liver X receptor α (LXRA) protein, which forms a heterodimer complex with retinoid X receptor. The mutations identified in the multiple sclerosis family are located in the ligand binding domain and are related to heterodimerization. This protein is highly expressed in internal organs, including liver, kidney and intestine. Studies have reported that people with NR1H3 mutations have a 70% chance of developing multiple sclerosis.

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