Single nucleotide polymorphisms of RXRA encoding retinoid X receptor alpha.

Retinoic X receptor alpha (RXRA), encoded by RXRA, plays a key role in development and metabolism, specifically in adipocyte biology, glucose homeostasis, and intestinal cholesterol balance. RXRA is also a positional candidate gene for Berardinelli-Seip congenital lipodystrophy. We report the systematic screening of RXRA coding regions by genomic DNA sequencing, which has resulted in the identification of three novel single-nucleotide polymorphisms.