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The official name of this gene is “DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11.”
DDX11 is the gene's official symbol. The DDX11 gene is also known by other names, listed below.
The DDX11 gene provides instructions for making an enzyme called ChlR1, which functions as a helicase. Helicases are enzymes that attach (bind) to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule so it can be copied (replicated) in preparation for cell division. ChlR1 is also involved in repairing any mistakes that are made when DNA is copied. In addition, ChlR1 is involved in other processes leading up to cell division. After replication, the DNA from each chromosome is arranged into two identical structures, called sister chromatids, which the ChlR1 enzyme helps to keep together until they are ready to separate into individual cells. This enzyme also ensures proper separation of chromatids during cell division. By helping repair mistakes in DNA and ensuring proper DNA replication, the ChlR1 enzyme plays a role in maintaining the stability of a cell's genetic information.
The DDX11 gene belongs to a family of genes called DDX (DEAD-boxes).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
At least three mutations in the DDX11 gene have been found to cause Warsaw breakage syndrome. This condition causes multiple abnormalities that may include impaired growth, distinctive facial features, hearing loss, and heart malformations. The mutations that cause Warsaw breakage syndrome severely reduce or completely eliminate ChlR1 enzyme activity. As a result, the enzyme cannot bind to DNA and cannot unwind the DNA strands to help with DNA replication and repair. A lack of functional ChlR1 impairs cell division and leads to an accumulation of DNA damage. This DNA damage can appear as breaks in the DNA, giving the condition its name. It is unclear how these problems in DNA maintenance lead to the specific abnormalities characteristic of Warsaw breakage syndrome.
Cytogenetic Location: 12p11
Molecular Location on chromosome 12: base pairs 31,073,580 to 31,104,798
The DDX11 gene is located on the short (p) arm of chromosome 12 at position 11.
More precisely, the DDX11 gene is located from base pair 31,073,580 to base pair 31,104,798 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 DDX11 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.
Ala ; Asp ; ATP ; cell ; cell division ; chromatid ; chromosome ; DNA ; DNA damage ; DNA replication ; double helix ; enzyme ; gene ; Glu ; growth factor ; helicase ; His ; keratinocyte ; molecule ; protein ; RNA ; sister chromatid ; sister chromatid exchange ; syndrome
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.