Mouse Anti-Human SOS1

This product specifically recognizes SOS1 (son of sevenless homolog 1), a ubiquitously expressed 150kDa intracellular protein and bifunctional guanine nucleotide exchange factor (GEF), which plays a role in growth and differentiation signalling pathways and in actin reorganization, by acting as a regulator of Ras and Rac/Rho GTPases.

Mutations in the SOS1 gene are responsible for the rare oral overgrowth condition known as gingival fibromatosis 1 (GINGF1), and also the cause of the relatively common autosomal dominant disorder Noonan syndrome type 4 (NS4), characterized by short stature, congenital heart malformation, bleeding diathesis and distinctive facial features.