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Rabbit Anti-SOS1/FITC Conjugated antibody
Function:
Promotes the exchange of Ras-bound GDP by GTP.
Tissue Specificity:
Expressed in gingival tissues.
DISEASE:
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.
Similarity:
Contains 1 DH (DBL-homology) domain.
Contains 1 N-terminal Ras-GEF domain.
Contains 1 PH domain.
Contains 1 Ras-GEF domain.
Database links:
Entrez Gene: 6654 Human
Entrez Gene: 20662 Mouse
Entrez Gene: 313845 Rat
Omim: 182530 Human
SwissProt: Q07889 Human
SwissProt: Q62245 Mouse
Unigene: 709893 Human
Unigene: 72004 Mouse
Unigene: 60975 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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