Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      SQLSKPGAALYLQSIGEGFKEAVQYVLPRLLLAPVYHCLHYFELLKQLEE KSEDQEDKECLKQAITALLNVQSGMEKICSKSLAKRRLSESACRFYSQQM KGKQLAIK
    • Amino acids
      313 to 420
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab152698 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    ELISA

    Western blot

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • alternate SOS1
    • GF1
    • GGF1
    • GINGF
    • gingival fibromatosis
    • gingival fibromatosis hereditary 1
    • Guanine nucleotide exchange factor
    • HGF
    • NS4
    • Son of sevenless homolog 1
    • Son of sevenless homolog 1 (Drosophila)
    • SOS Ras/Rac guanine nucleotide exchange factor 1
    • SOS-1
    • Sos1
    • SOS1_HUMAN
    see all
  • Function
    Promotes the exchange of Ras-bound GDP by GTP.
  • Tissue specificity
    Expressed in gingival tissues.
  • Involvement in 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.
  • Sequence similarities
    Contains 1 DH (DBL-homology) domain.
    Contains 1 N-terminal Ras-GEF domain.
    Contains 1 PH domain.
    Contains 1 Ras-GEF domain.
  • Information by UniProt

Images

  • ab152698 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab152698 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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