Article
A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands.
Frontiers in endocrinology - 1 Jan 2022
Gau Maki, Suga Ryota, Hijikata Atsushi, Kashimada Ayako, Takagi Masatoshi, Nakagawa Ryuichi, Takasawa Kei, Shirai Tsuyoshi, Kashimada Kenichi, Morio Tomohiro
Abstract excerpt
Introduction: NR5A1 and NR5A2 belong to an orphan nuclear receptor group, and approximately 60% of their amino acid sequences are conserved. Transcriptional regulation of NR5A receptors depends on interactions with co-factors or unidentified ligands. Purpose and methods: We employed in vitro and in silico analysis for elucidating the pathophysiology of a novel variant in the ligand-binding domain of NR5A1,...
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