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Reviewed August 2009
What is the official name of the ATRX gene?
The official name of this gene is “alpha thalassemia/mental retardation syndrome X-linked.”
ATRX is the gene's official symbol. The ATRX 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 ATRX gene?
The ATRX gene provides instructions for making a protein that plays an essential role in normal development. Although the specific function of the ATRX protein is unknown, studies suggest that it helps regulate the activity (expression) of other genes through a process known as chromatin remodeling. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed.
The ATRX protein appears to regulate the expression of two genes, HBA1 and HBA2, that are necessary for the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body. Other genes regulated by the ATRX protein have not been identified.
How are changes in the ATRX gene related to health conditions?
Where is the ATRX gene located?
Cytogenetic Location: Xq21.1
Molecular Location on the X chromosome: base pairs 76,760,355 to 77,041,754
The ATRX gene is located on the long (q) arm of the X chromosome at position 21.1.
More precisely, the ATRX gene is located from base pair 76,760,355 to base pair 77,041,754 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ATRX?
You and your healthcare professional may find the following resources about ATRX 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 ATRX gene or gene products?
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.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding ATRX?
acids ; bone marrow ; chromatin ; chromatin remodeling ; developmental delay ; DNA ; gene ; gene expression ; helicase ; hemoglobin ; mental retardation ; myelodysplastic syndrome ; oxygen ; protein ; syndrome ; thalassemia
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 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.