RIT1 gene

Last updated on: 23.08.2023

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DefinitionThis section has been translated automatically.

The RIT1 gene (RIT1 stands for "Ras Like Without CAAX 1") is a protein-coding gene located on chromosome 1q22. Alternative splicing results in multiple transcript variants.

General informationThis section has been translated automatically.

The RIT1 gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in the regulation of p38 MAPK-dependent signaling cascades associated with cellular stress. RIT1- protein also cooperates with nerve growth factor to promote neuronal development and regeneration. It plays a critical role in coupling NGF stimulation, activation of EPHB2 and MAPK14 signaling pathways, and NGF-dependent neuronal differentiation. Is involved in ELK1 transactivation through the Ras-MAPK signaling cascade, which mediates a variety of cellular functions, including cell proliferation, survival, and differentiation.

Diseases associated with RIT1 include Noonan syndrome (variants: Noonan syndrome 8 and Noonan syndrome 1).

Last updated on: 23.08.2023