Description
Product Characteristics:
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.Involvement in disease:Defects in SHOC2 are the cause of Noonan syndrome-like with loose anagen hair (NSLAH). NSLAH children display macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck and pectus anomalies. Affected subjects also have easily pluckable, sparse, thin and slow-growing hair.
Subcellular location: Cytoplasm, Nucleus
Synonyms: Leucine-rich repeat protein SHOC-2, Leucine-rich repeat protein SHOC-2, Ras-binding protein Sur-8, KIAA0862, Leucine-rich repeat protein SHOC-2, Protein soc-2 homolog, Protein Sur-8 homolog, SHOC2, SHOC2_HUMAN.
Target Information: 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]