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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.
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.
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.
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.
Cytogenetic Location: 12q13.13
Molecular Location on chromosome 12: base pairs 51,906,912 to 51,923,360
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 51,906,912 to base pair 51,923,360 on chromosome 12.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ACVRL1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
adenine ; amino acid ; arteries ; arteriovenous ; DNA ; gene ; genetic variation ; growth factor ; guanine ; hereditary ; kinase ; ligand ; nucleotide ; polymorphism ; population ; precursor ; protein ; receptor ; serine ; telangiectasia ; threonine ; veins
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.