endoglin
Última actualización 20 de mayo de 2021
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El ENG gene provides instructions for making a protein called endoglin. This protein is found on the surface of cells, especially in the lining of developing arteries. It forms a complex with growth factors and other proteins involved in the development of blood vessels. In particular, this complex is involved in the specialization of new blood vessels into arteries or veins.
Normal function
El ENG gene provides instructions for making a protein called endoglin. This protein is found on the surface of cells, especially in the lining of developing arteries. It forms a complex with growth factors and other proteins involved in the development of blood vessels. In particular, this complex is involved in the specialization of new blood vessels into arteries or veins.
Conditions referring to this gene or chromosome
Otros nombres
CD105
EGLN_HUMAN
END
endoglin (Osler-Rendu-Weber syndrome 1)
endoglin precursor
HHT1
ORW
ORW1
Transforming Growth Factor P Receptor III
Lecturas adicionales y referencias
- endoglin; MedlinePlus, National Library of Medicine.
- Azuma H. Genetic and molecular pathogenesis of hereditary hemorrhagic telangiectasia. J Med Invest. 2000 Aug;47(3-4):81-90.
- Conley BA, Koleva R, Smith JD, Kacer D, Zhang D, Bernabeu C, Vary CP. Endoglin controls cell migration and composition of focal adhesions: function of the cytosolic domain. J Biol Chem. 2004 Jun 25;279(26):27440-9. doi: 10.1074/jbc.M312561200. Epub 2004 Apr 14.
- Karabegovic A, Shinawi M, Cymerman U, Letarte M. No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia. J Med Genet. 2004 Nov;41(11):e119. doi: 10.1136/jmg.2004.022079. No abstract available.
- Lebrin F, Deckers M, Bertolino P, Ten Dijke P. TGF-beta receptor function in the endothelium. Cardiovasc Res. 2005 Feb 15;65(3):599-608. doi: 10.1016/j.cardiores.2004.10.036.
- Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Riviere S, Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A, Giraud S; French Rendu-Osler Network. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat. 2004 Apr;23(4):289-99. doi: 10.1002/humu.20017.
- Letteboer TG, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, Lindhout D, Hennekam FA, Westermann CJ, Ploos van Amstel JK. Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. Hum Genet. 2005 Jan;116(1-2):8-16. doi: 10.1007/s00439-004-1196-5. Epub 2004 Oct 23.
- Pawlikowska L, Tran MN, Achrol AS, Ha C, Burchard E, Choudhry S, Zaroff J, Lawton MT, Castro R, McCulloch CE, Marchuk D, Kwok PY, Young WL; UCSF BAVM Study Project. Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations. Stroke. 2005 Oct;36(10):2278-80. doi: 10.1161/01.STR.0000182253.91167.fa. Epub 2005 Sep 22.
- Sanz-Rodriguez F, Fernandez-L A, Zarrabeitia R, Perez-Molino A, Ramirez JR, Coto E, Bernabeu C, Botella LM. Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes. Clin Chem. 2004 Nov;50(11):2003-11. doi: 10.1373/clinchem.2004.035287. Epub 2004 Sep 16.
- van den Driesche S, Mummery CL, Westermann CJ. Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis. Cardiovasc Res. 2003 Apr 1;58(1):20-31. doi: 10.1016/s0008-6363(02)00852-0.
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