The variations in human orphan G protein-coupled receptor QRFPR affect PI3K-AKT-mTOR signaling

人类孤儿 G 蛋白偶联受体 QRFPR 的变异影响 PI3K-AKT-mTOR 信号传导

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作者:Huanzheng Li, Ran Lou, Xueqin Xu, Chenyang Xu, Yuan Yu, Yunzhi Xu, Lin Hu, Yanbao Xiang, Xuan Lin, Shaohua Tang

Background

QRFPR is a recently identified member of the G protein-coupled receptor and is an orphan receptor for 26Rfa, which plays important role in the regulation of many physiological functions.

Conclusions

Our findings suggest that QRFPR acts as important role in neurodevelopment, and the effects of QRFPR are likely to be mediated by the Ca2+ -dependent PI3K-AKT-mTOR pathways. Importantly, these findings provide a foundation for future elucidation of GPCR-mediated signaling and the physiological implications.

Methods

Here, we employed whole exome sequencing (WES) to examine the patients with intellectual disability (ID) and difficulty in feeding. We performed SIFT and PolyPhen2 predictions for the variants. The structure model was built from scratch by I-TASSER. Here,

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