SOS Ras/Rac guanine nucleotide exchange factor 1
Zuletzt aktualisiert 18. Aug 2020
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Der SOS1 gene provides instructions for making a protein that is involved in controlling (regulating) the activation of the RAS/MAPK signaling pathway, which helps control several important cell functions. Specifically, the pathway regulates the growth and division of cells (proliferation), the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (apoptosis). Within the RAS/MAPK signaling pathway, the SOS1 protein regulates a protein, called Ras, that stimulates cells to grow and divide. This regulation tightly controls the growth of cells and tissues, and is especially important for proper embryonic development.
Normal function
Der SOS1 gene provides instructions for making a protein that is involved in controlling (regulating) the activation of the RAS/MAPK signaling pathway, which helps control several important cell functions. Specifically, the pathway regulates the growth and division of cells (proliferation), the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (apoptosis). Within the RAS/MAPK signaling pathway, the SOS1 protein regulates a protein, called Ras, that stimulates cells to grow and divide. This regulation tightly controls the growth of cells and tissues, and is especially important for proper embryonic development.
Conditions referring to this gene or chromosome
Other names
alternate SOS1
GF1
GGF1
GINGF
gingival fibromatosis
gingival fibromatosis, hereditary, 1
HGF
son of sevenless homolog 1
son of sevenless homolog 1 (Drosophila)
SOS1_HUMAN
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Weiterführende Lektüre und Referenzen
- SOS Ras/Rac guanine nucleotide exchange factor 1; MedlinePlus, National Library of Medicine.
- Calcagni G, Baban A, De Luca E, Leonardi B, Pongiglione G, Digilio MC. Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review. Am J Med Genet A. 2016 Mar;170(3):665-9. doi: 10.1002/ajmg.a.37505. Epub 2015 Dec 21.
- Hart TC, Zhang Y, Gorry MC, Hart PS, Cooper M, Marazita ML, Marks JM, Cortelli JR, Pallos D. A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. Am J Hum Genet. 2002 Apr;70(4):943-54. doi: 10.1086/339689. Epub 2002 Feb 26.
- Jang SI, Lee EJ, Hart PS, Ramaswami M, Pallos D, Hart TC. Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis. J Biol Chem. 2007 Jul 13;282(28):20245-55. doi: 10.1074/jbc.M701609200. Epub 2007 May 17.
- Martinez Planello A, Sotillo M, Rodriguez-Santos F. Cognitive profile of a child with SOS1 mutation in Noonan syndrome. Neurologia (Engl Ed). 2018 Mar;33(2):137-138. doi: 10.1016/j.nrl.2016.01.002. Epub 2016 Mar 8. No abstract available. English, Spanish.
- Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub 2006 Dec 3.
- Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. Epub 2010 Sep 27.
- Shannon K, Bollag G. Sending out an SOS. Nat Genet. 2007 Jan;39(1):8-9. doi: 10.1038/ng0107-8. No abstract available.
- Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet. 2007 Jan;39(1):75-9. doi: 10.1038/ng1939. Epub 2006 Dec 13.
- Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C, Seidel H, Wehner LE, Zweier C, Bauhuber S, Matejas V, Kratz CP, Thomas C, Kutsche K. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J Med Genet. 2007 Oct;44(10):651-6. doi: 10.1136/jmg.2007.051276. Epub 2007 Jun 23.
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18. Aug 2020 | Neueste Version
1 May 2016 | Ursprünglich veröffentlicht
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