SOS Ras/Rac guanine nucleotide exchange factor 1
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
L 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
L 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
Altri nomi
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
Related patient information and medicines
Patient information leaflet
Sindrome da anticorpi antifosfolipidi
What causes antiphospholipid syndrome. The exact cause is unknown; however, APS seems to be related to the presence of antiphospholipid antibodies in the blood. D... Special lung scans called computerised tomographic pulmonary angiography (CTPA) scans or isotope scans (also called a ventilation/perfusion scan or V/Q scan) and chest X-rays may all.
Patient information leaflet
Medicinali biologici per l'artrite reumatoide
Biological medicines are a newer type of medicine, used to ease the symptoms of artrite reumatoide and reduce the damaging effect of the disease on the joints. They are usually prescribed when you have tried o... What are biological medicines. Biological medicines are a group of newer medicines that are used to ease the symptoms of rheumatoid.
Patient information leaflet
Artrite reumatoide
The earlier treatment is started, the less joint damage is likely to occur. Surgery is needed in some cases if a joint becomes badly damaged. What is rheumatoid arthritis. Arthritis means inflammation of joints. Artrite reumatoide (AR) è a fairly common form of arthritis. (There are various other causes of arthritis and RA is just one cause.)..
Patient information leaflet
Pre-eclampsia
Pre-eclampsia involves high blood pressure and protein in the urine. It can have no symptoms but some women may have headache, blurred vision, tummy pain and swollen ankles. The severity of pre-eclampsia is usually (but not always) related to your blood pressure level. It can be a serious condition but specialist care will help mother and baby.
Patient information leaflet
porpora di Henoch-Schönlein
For example, parvovirus B19, Haemophilus parainfluenzae, Coxsackievirus and adenovirus. What are the symptoms of HSP. Flu-like symptoms Someone with Henoch-Schönlein purpura (HSP) will often have had an upper respiratory tract infection within the few weeks before they develop the condition. So, for example, they may have had a cough, runny nose,.
Patient information leaflet
Farmaci antireumatici modificanti la malattia
Because they a... What are DMARDs: disease-modifying antirheumatic drugs. Farmaci antireumatici modificanti la malattia (DMARDs) are a group of medicines that are used to ease the sintomi di artrite reumatoide (AR) and reduce the damaging effect of the disease on the joints. There are quite a few DMARDs available to treat RA. They include:.
Ulteriori letture e riferimenti
- 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.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.