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Article

A gain-of-function variant in RICTOR predisposes to human obesity.

Journal of genetics and genomics = Yi chuan xue bao - 1 Apr 2025

Ni Mengshan, Zhu Yinmeng, Chen Yufei, Zhao Shaoqian, Gao Aibo, Lu Jieli, Wang Weiqing, Liu Ruixin, Gu Weiqiong, Hong Jie, Wang Jiqiu

Abstract excerpt

mTORC1/2 play central roles as signaling hubs of cell growth and metabolism and are therapeutic targets for several diseases. However, the human genetic evidence linking mutations of mTORC1/2 to obesity remains elusive. Using whole-exome sequencing of 1944 cases with severe obesity and 2161 healthy lean controls, we identify a rare RICTOR p.I116V variant enriched in 9 unrelated cases. In Rictor null mouse...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39984155
DOI: 10.1016/j.jgg.2025.02.002

Genes

RICTOR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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