MOUSE ANTI SOS1

GWB-A601C4

IgG1Species Cross Reactivity: Reacts with: MouseN. B. Antibody reactivity and working conditions may vary between species.

Phosphate buffered saline pH7. 4

Synthetic peptide corresponding to amino acids THPSMHRDGPPLLENAHSS of human SOS1.

Promotes the exchange of Ras-bound GDP by GTP. Subunit structureInteracts with GRB2. Forms a complex with phosphorylated MUC1 and GRB2 (via its SH3 domains). Interacts with phosphorylated LAT2. Ref. 4Ref. 5Tissue specificityExpressed in gingival tissues. Ref. 11Involvement in diseaseDefects in SOS1 are the cause of gingival fibromatosis 1 (GGF1) [MIM:135300]; also known as GINGF1. Gingival fibromatosis is a rare overgrowth condition characterized by a benign slowly progressive nonhemorrhagic fibrous enlargement of maxillary and mandibular keratinized gingiva. GGF1 is usually transmitted as an autosomal dominant trait although sporadic cases are common. Ref. 11Defects in SOS1 are the cause of Noonan syndrome type 4 (NS4) [MIM:610733]. NS4 is an autosomal dominant disorder characterized by dysmorphic facial features short stature hypertelorism cardiac anomalies deafness motor delay and a bleeding diathesis. It is a genetically heterogeneous and relatively common syndrome with an estimated incidence of 1 in 1000-2500 live births. Rarely NS4 is associated with juvenile myelomonocytic leukemia (JMML). SOS1 mutations engender a high prevalence of pulmonary valve disease; atrial septal defects are less common. Ref. 12Ref. 13Sequence similaritiesContains 1 DH (DBL-homology) domain. Contains 1 N-terminal Ras-GEF domain. Contains 1 PH domain. Contains 1 Ras-GEF domain.