LXR Alpha Polyclonal Antibody, 50ul Funnels Mutations in this gene have

Mutations in this gene have been associated with KBG syndrome| which is characterized by macrodontia| distinctive craniofacial features| short stature| skeletal anomalies| global developmental delay| seizures and intellectual disability

which is a subtype of ionotropic glutamate receptor

which is highly enriched in postsynaptic structures of Purkinje cells

so this may be a tumor suppressor gene

The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin

LXR Alpha Polyclonal Antibody, 50ul Funnels Mutations in this gene haveOxysterols receptor LXR alpha encoded by NR1H3 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