Article

Genetic variants linked to neurodevelopmental disorders within the β3-β4 loop of the TRIO PH2 domain release autoinhibition of GEF2 activity

2025-04-14

Abstract excerpt

The TRIO protein contains two guanine exchange factor (GEF) domains, GEF1 and GEF2, which coordinate cytoskeletal rearrangements by activating Rho family GTPases. Rare variants that impact TRIO GEF1 function are associated with autism spectrum disorder, developmental delay, and intellectual disability, but variants are also found throughout the gene. GEF1 promotes GTP exchange on Rac1 and RhoG, while GEF2 activate...

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Literature Corpus work: b922e2b4-5ad2-5645-83a1-d2d4fb87d7f0
DOI: 10.1101/2025.04.14.648796

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