Single nucleotide polymorphisms of RXRA encoding retinoid X receptor alpha
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Updated: Oct 5, 2026

Prediction and Validation of Gene Regulatory Elements Activated During Retinoic Acid Induced Embryonic Stem Cell Differentiation
Published on: June 21, 2016
1Blackburn Cardiovascular Genetics Laboratory, London, Ontario, Canada. robert.hegele@rri.on.ca
Abstract:
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.
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