Reaction: SHOC2 M173I disrupts the SHOC2:MRAS:PP1 complex
- in pathway: SHOC2 M1731 mutant abolishes MRAS complex function
A loss-of-function mutation in SHOC2 has been identified in a patient with a Noonan-related syndrome (Hannig et al, 2014). SHOC2 M173I has impaired ability to interact with PPP1CC and reduces the MRAS-SHOC2-PP1-dependent dephosphorylation of RAF, which is required for RAF pathway activation (Rodriguez-Viciano et al, 2006; Hannig et al, 2014). How both loss and gain-of-function SHOC2 mutants can contribute to RAF pathway activation remains to be elucidated.
Reaction - small molecule participants:
H2O [cytosol]
Reactome.org reaction link: R-HSA-9660536
======
Reaction input - small molecules:
water
Reaction output - small molecules:
Reactome.org link: R-HSA-9660536