Anti-SOS1 [TF7-28-37]
Invented at IFOM-IEO
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Info
| Applications | IHC IF IP WB |
| Antigen/Gene or Protein Targets | Son Of Sevenless homolog 1 |
| Synonyms | GF1, GGF1, GINGF, gingival fibromatosis, gingival fibromatosis hereditary 1, Guanine nucleotide exchange factor, HGF, NS4, Son of sevenless homolog 1 (Drosophila), Son of sevenless homolog 1, SOS Ras/Rac guanine nucleotide exchange factor 1 |
| Reactivity | Human |
| Relevance |
Defects 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. 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. |
| Host | Mouse |
| Myeloma Used | Sp2/0 |
| Research Area | Cancer, Cardiovascular, Cell Signaling & Signal Transduction |
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