Reviewed February 2007
What is the official name of the ACVRL1 gene?
The official name of this gene is “activin A receptor type II-like 1.”
ACVRL1 is the gene's official symbol. The ACVRL1 gene is also known by other names, listed below.
What is the normal function of the ACVRL1 gene?
The 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.
How are changes in the ACVRL1 gene related to health conditions?
- hereditary hemorrhagic telangiectasia - caused by mutations in the ACVRL1 gene
Dozens of mutations in the ACVRL1 gene have been found to cause hereditary hemorrhagic telangiectasia type 2. Many ACVRL1 gene mutations substitute one protein building block (amino acid) for another amino acid in the ACVRL1 protein, which impairs the protein's function. Other mutations prevent production of the ACVRL1 protein or result in an abnormally small protein that cannot function. The shortage of functional ACVRL1 protein appears to interfere with the development of boundaries between arteries and veins, resulting in the signs and symptoms of hereditary hemorrhagic telangiectasia type 2.
- other disorders - increased risk from variations of the ACVRL1 gene
A common genetic variation (polymorphism) in the ACVRL1 gene has been found to appear more often in people who develop arteriovenous malformations in the brain, but who do not have other signs or symptoms of hereditary hemorrhagic telangiectasia, than in the general population. The polymorphism replaces a particular DNA building block (nucleotide) called adenine with the nucleotide guanine (written as IVS3-35 A>G). This genetic variation may affect the development of blood vessels in the brain, resulting in an increased risk of arteriovenous malformations.
Where is the ACVRL1 gene located?
Cytogenetic Location: 12q13.13
Molecular Location on chromosome 12: base pairs 52,300,656 to 52,317,144
The ACVRL1 gene is located on the long (q) arm of chromosome 12 at position 13.13.
More precisely, the ACVRL1 gene is located from base pair 52,300,656 to base pair 52,317,144 on chromosome 12.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about ACVRL1?
You and your healthcare professional may find the following resources about ACVRL1 helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1351/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for ACVRL1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=94%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((ACVRL1%5BTIAB%5D)%20OR%20(activin%20A%20receptor%20type%20II-like%201%5BTIAB%5D))%20OR%20((HHT%5BTIAB%5D)%20OR%20(ALK1%5BTIAB%5D)%20OR%20(HHT2%5BTIAB%5D)%20OR%20(ORW2%5BTIAB%5D)%20OR%20(SKR3%5BTIAB%5D)%20OR%20(ALK-1%5BTIAB%5D)%20OR%20(ACVRLK1%5BTIAB%5D)%20OR%20(Activin%20A%20receptor,%20type%20II-like%20kinase%201%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog
- ACTIVIN A RECEPTOR, TYPE II-LIKE 1 (http://omim.org/entry/601284)
- ARTERIOVENOUS MALFORMATIONS OF THE BRAIN (http://omim.org/entry/108010)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_ACVRL1.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=94)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=175)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/94)
What other names do people use for the ACVRL1 gene or gene products?
- Activin A receptor, type II-like kinase 1
- EC 220.127.116.11
- Serine/threonine-protein kinase Receptor R3 Precursor
- TGF-B Superfamily Receptor Type I
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding ACVRL1?
amino acid ;
genetic variation ;
growth factor ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Azuma H. Genetic and molecular pathogenesis of hereditary hemorrhagic telangiectasia. J Med Invest. 2000 Aug;47(3-4):81-90. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11019486?dopt=Abstract)
- 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15664386?dopt=Abstract)
- Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Rivière 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. (http://www.ncbi.nlm.nih.gov/pubmed/15024723?dopt=Abstract)
- 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. Epub 2004 Oct 23. (http://www.ncbi.nlm.nih.gov/pubmed/15517393?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/94)
- OMIM: ACTIVIN A RECEPTOR, TYPE II-LIKE 1 (http://omim.org/entry/601284)
- 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. Epub 2005 Sep 22. (http://www.ncbi.nlm.nih.gov/pubmed/16179574?dopt=Abstract)
- 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12667943?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.