功能： disease:Defects in SOS1 are the cause of gingival fibromatosis 1 (GGF1) [MIM:135300]; also designated 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.,disease:Defects 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.,function:Promotes the exchange of Ras-bound GDP by GTP.,online information:Son of sevenless entry,similarity:Contains 1 DH (DBL-homology) domain.,similarity:Contains 1 N-terminal Ras-GEF domain.,similarity:Contains 1 PH domain.,similarity:Contains 1 Ras-GEF domain.,subunit:Interacts with GRB2. Forms a complex with phosphorylated MUC1 and GRB2 (via its SH3 domains). Interacts with phosphorylated LAT2.,tissue specificity:Expressed in gingival tissues.,
功能： disease:Defects in SOS1 are the cause of gingival fibromatosis 1 (GGF1) [MIM:135300]; also designated 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.,disease:Defects 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.,function:Promotes the exchange of Ras-bound GDP by GTP.,online information:Son of sevenless entry,similarity:Contains 1 DH (DBL-homology) domain.,similarity:Contains 1 N-terminal Ras-GEF domain.,similarity:Contains 1 PH domain.,similarity:Contains 1 Ras-GEF domain.,subunit:Interacts with GRB2. Forms a complex with phosphorylated MUC1 and GRB2 (via its SH3 domains). Interacts with phosphorylated LAT2.,tissue specificity:Expressed in gingival tissues.,
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