CNKSR2
CNKSR2 (Connector Enhancer of Kinase Suppressor of Ras 2) is a protein that in humans is encoded by the CNKSR2 gene. This protein is part of the signal transduction pathway, which is a complex system of communication that governs basic cellular functions and coordinates cell actions.
Function[edit | edit source]
The CNKSR2 protein is involved in the transmission of signals within cells. It is a scaffold protein, meaning it helps to organize and position other proteins. Specifically, it interacts with several other proteins involved in signal transduction, including Ras, Raf, and MAPK.
Clinical significance[edit | edit source]
Mutations in the CNKSR2 gene have been associated with several neurological disorders. These include intellectual disability, epilepsy, and non-syndromic X-linked intellectual disability.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD