What is the official name of the CECR1 gene?
The official name of this gene is “cat eye syndrome chromosome region, candidate 1.”
CECR1 is the gene's official symbol. The CECR1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CECR1 gene?
The CECR1 gene provides instructions for making an enzyme called adenosine deaminase 2. This enzyme breaks down molecules called adenosine and 2'-deoxyadenosine. Because this enzyme functions in the spaces between cells, it is described as extracellular. Another form of adenosine deaminase, often called adenosine deaminase 1, breaks down the same molecules inside cells. This other version of the enzyme is produced from the ADA gene.
Researchers are still working to determine what roles the extracellular form of adenosine deaminase plays in the body. Studies suggest that it acts as a growth factor, which means that it stimulates cell growth and division. In particular, the enzyme appears to be involved in the growth and development of certain immune system cells, including macrophages, which are a type of white blood cell that plays a critical role in inflammation. Some macrophages are pro-inflammatory, meaning they promote inflammation, while others are anti-inflammatory, meaning they reduce inflammation. Adenosine deaminase 2 also seems to be essential for keeping the lining of blood vessel walls intact.
How are changes in the CECR1 gene related to health conditions?
- adenosine deaminase 2 deficiency - caused by mutations in the CECR1 gene
- At least 15 mutations in the CECR1 gene have been found to cause adenosine deaminase 2 deficiency, a disorder characterized by abnormal inflammation of various organs and tissues, particularly the blood vessels (vasculitis). These mutations severely reduce or eliminate the function of adenosine deaminase 2. Researchers do not fully understand how a loss of this enzyme's function leads to the features of ADA2 deficiency. They speculate that a lack of this enzyme may disrupt the balance between pro-inflammatory and anti-inflammatory macrophages in various tissues, leading to abnormal inflammation. The enzyme's role in maintaining the structural integrity of blood vessels could help explain why the blood vessels are most often affected by inflammation in this disorder.
Where is the CECR1 gene located?
Cytogenetic Location: 22q11.2
Molecular Location on chromosome 22: base pairs 17,178,789 to 17,221,853
The CECR1 gene is located on the long (q) arm of chromosome 22 at position 11.2.
More precisely, the CECR1 gene is located from base pair 17,178,789 to base pair 17,221,853 on chromosome 22.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CECR1?
You and your healthcare professional may find the following resources about CECR1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the CECR1 gene or gene products?
- adenosine deaminase 2
- adenosine deaminase CECR1
- cat eye syndrome critical region protein 1
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
- What is DNA?
- What is a gene?
- How do genes direct the production of proteins?
- How can gene mutations affect health and development?
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CECR1?
cell ; chromosome ; critical region ; deficiency ; enzyme ; extracellular ; gene ; growth factor ;immune system ; inflammation ; innate immunity ; myeloid ; neutrophils ; Pro ; protein ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 links)
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? in the Handbook