SHOC2
This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]
Full Name
SHOC2, Leucine Rich Repeat Scaffold Protein
Function
Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the 'Ser-259' inhibitory site of RAF1 kinase and stimulate RAF1 activity at specialized signaling complexes.
Biological Process
Biological Process fibroblast growth factor receptor signaling pathway1 PublicationNAS:UniProtKB
Biological Process positive regulation of Ras protein signal transductionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process Ras protein signal transduction1 PublicationNAS:UniProtKB
Biological Process signal transductionManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Cytoplasm
Nucleus
Translocates from cytoplasm to nucleus upon growth factor stimulation.
Involvement in disease
Noonan syndrome-like disorder with loose anagen hair 1 (NSLH1):
A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair.
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