activin A receptor like type 1
Última actualización 20 de mayo de 2021
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El ACVRL1 gene provides instructions for making a protein called activin receptor-like kinase 1. This protein is found on the surface of cells, especially in the lining of developing arteries.
Normal function
El ACVRL1 gene provides instructions for making a protein called activin receptor-like kinase 1. This protein is found on the surface of cells, especially in the lining of developing arteries.
The ACVRL1 protein is a receptor. It acts as a "lock" waiting for a specific protein, called its ligand, to serve as the "key." In the case of the ACVRL1 protein, the ligand is called transforming growth factor beta. The interaction between these proteins plays a role in the development of blood vessels. In particular, this protein interaction is involved in the specialization of new blood vessels into arteries or veins.
Conditions referring to this gene or chromosome
Otros nombres
activin A receptor type II-like 1
activin A receptor type IL
Activin A receptor, type II-like kinase 1
ACVL1_HUMAN
ACVRLK1
ALK-1
ALK1
EC 2.7.1.37
HHT
HHT2
ORW2
Serine/threonine-protein kinase Receptor R3 Precursor
SKR3
TGF-B Superfamily Receptor Type I
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Lecturas adicionales y referencias
- activin A receptor like type 1; 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.
- 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.
- 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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