产品名称
SOS1 Rabbit Polyclonal Antibody
蛋白名称
Son of sevenless homolog 1 (SOS-1)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
Q07889
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q07889/entry
Mouse Swissprot No.
Q62245
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q62245
免疫原
Synthesized peptide derived from part region of human protein
特异性
SOS1 Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008],
组织表达
Expressed in gingival tissues.
细胞定位
intracellular,cytosol,plasma membrane,postsynaptic density,neuronal cell body,
信号通路
MAPK_ERK_Growth;MAPK_G_Protein;ErbB_HER;Chemokine;Dorso-ventral axis formation;Focal adhesion;Gap junction;Jak_STAT;Natural killer cell mediated cytotoxicity;T_Cell_Receptor;B_Cell_Antigen;Fc epsilon RI;Neurotrophin;Regulates Actin and Cytoskeleton;Insuli
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
