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  • SOS1 - DECIPHER v11. 36
    Data from the SOS1 gene is compared against data from all patients with plausibly pathogenic sequence variants in DECIPHER
  • SOS RAS RAC GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; SOS1 - OMIM
    Missense mutations of SOS1 were discovered in 28% of patients with Noonan syndrome, thus confirming SOS1 as the second major gene for that disorder In contrast, none of the patients classified as having CFCS carried a pathogenic sequence change in the SOS1 gene
  • SOS1 Gene - GeneCards | SOS1 Protein | SOS1 Antibody
    SOS1 (SOS Ras Rac Guanine Nucleotide Exchange Factor 1) is a Protein Coding gene Diseases associated with SOS1 include Noonan Syndrome 4 and Fibromatosis, Gingival, 1 Among its related pathways are Downstream signaling of activated FGFR2 and Prolactin Signaling
  • SOS1 - Wikipedia
    Function SOS1 is a guanine nucleotide exchange factor (GEF) which interacts with Ras proteins to phosphorylate GDP into GTP, or from an inactive state to an active state to signal cell proliferation
  • SOS1 gene: MedlinePlus Genetics
    More than 55 mutations causing Noonan syndrome have been identified in the SOS1 gene Noonan syndrome is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms
  • SOS1 SOS Ras Rac guanine nucleotide exchange factor 1 [ (human)]
    Increased expression of SOS1 increases NFkappaB activation in several types of cancer cells, and ablation of SOS1 inhibits EGF-induced NFkappaB activation in these cells, indicating that SOS1 is a component of the pathway connecting EGFR to NFkappaB activation
  • SOS1 curation results
    Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3 ERK1 in response to EGF (PubMed:17339331) Catalytic component of a trimeric complex that participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF) activity (By similarity)
  • Gene: SOS1 (Hydrops fetalis) - panelapp-aus. org
    Well established gene disease association for Noonan Syndrome type 4 ASD appears to be relatively rare in affected individuals with SOS1 mutations and macrocephaly is overrepresented among those with SOS1 mutations





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