RXRA Gene: Retinoid X Receptor Alpha - Function, Mutations, and Disease

RXRA encodes retinoid X receptor alpha, a nuclear receptor that forms heterodimers with other nuclear receptors (e.g., RAR, VDR, PPAR, LXR, FXR) to regulate transcription of genes involved in cell differentiation, metabolism, and development. RXRA is activated by 9-cis retinoic acid and plays a critical role in retinoid signaling, lipid metabolism, and cancer biology.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Retinoic acid receptor signaling pathway (RXR/RAR)

• PPAR signaling pathway

• Vitamin D receptor pathway

• LXR/RXR activation

• FXR/RXR activation

Retinoid X receptor alpha (RXRα) is a 462-amino-acid nuclear receptor with a conserved DNA-binding domain and a ligand-binding domain. It functions as a master regulator by forming permissive heterodimers with multiple nuclear receptors, enabling diverse signaling inputs. RXRα is ubiquitously expressed, with highest levels in liver and kidney. Post-translational modifications (phosphorylation, sumoylation) modulate its activity. In cancer, RXRA fusions (e.g., PML-RARA) drive leukemogenesis, while point mutations can alter metabolic gene expression.