Target
Human SOS1
Synonyms
SOS1 | GINGF | NS4 | SOS-1 | Son of sevenless homolog 1 | GF1 | GGF1
Reactivity
Human
(tested or 100% immunogen sequence identity)
Immunogen
Synthetic peptide corresponding to amino acids THPSMHRDGPPLLENAHSS of human SOS1. Percent identity by BLAST analysis: Human, Chimpanzee, Gorilla, Orangutan, Gibbon, Monkey, Galago, Marmoset, Mouse, Rat, Ferret, Elephant, Panda, Bovine, Cat, Horse, Rabbit, Opossum, Guinea pig (100%); Dog, Turkey, Zebra finch (95%); Lizard (89%).
Specificity
Recognizes SOS1 (son of sevenless homolog 1), a ubiquitously expressed 150kD 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.