A 21 amino acid peptide near the N terminus of Human Shoc2/ Sur8 (NP_031399).
Positive control:
Jurkat cell lysate; Human spleen tissue
Form:
Liquid
Storage instructions:
Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
Storage buffer:
pH: 7.2
Preservative: 0.02% Sodium azide
Constituent: PBS
Concentration:
100 µg at 1 mg/ml
Purity:
Immunogen affinity purified
Clonality:
Polyclonal
Isotype:
IgG
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.
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.
