SHOC2 Antibody (N-Term) Blocking Peptide

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]

SHOC2: 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. Defects in SHOC2 are the cause of Noonan syndrome-like disorder with loose anagen hair (NSLH). 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. Belongs to the SHOC2 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Adaptor/scaffold

Chromosomal Location of Human Ortholog: 10q25

Cellular Component: cytoplasm; nucleoplasm; nucleus; protein phosphatase type 1 complex

Molecular Function: protein binding; protein phosphatase 1 binding; protein phosphatase binding; protein phosphatase regulator activity

Biological Process: positive regulation of Ras protein signal transduction

Disease: Noonan Syndrome-like Disorder With Loose Anagen Hair