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Reviewed January 2008
What is the official name of the RECQL4 gene?
The official name of this gene is “RecQ protein-like 4.”
RECQL4 is the gene's official symbol. The RECQL4 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 RECQL4 gene?
The RECQL4 gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division, and for repairing damaged DNA. Because RecQ helicases maintain the structure and integrity of DNA, they are known as the "caretakers of the genome."
Although the structure of the RECQL4 protein is similar to other members of the RecQ helicase family, it does not appear to act as a helicase within cells. The exact function of the RECQL4 protein is unknown. Like other RecQ helicases, however, this protein helps maintain the stability of each cell's genetic information and is important for normal DNA replication and repair.
The RECQL4 protein is active in several types of cells, both before and after birth. Researchers believe that this protein is particularly important in cells of the developing bones and skin. It has also been found in enterocytes, which are cells that line the intestine and absorb nutrients.
How are changes in the RECQL4 gene related to health conditions?
Where is the RECQL4 gene located?
Cytogenetic Location: 8q24.3
Molecular Location on chromosome 8: base pairs 145,736,666 to 145,743,209
The RECQL4 gene is located on the long (q) arm of chromosome 8 at position 24.3.
More precisely, the RECQL4 gene is located from base pair 145,736,666 to base pair 145,743,209 on chromosome 8.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about RECQL4?
You and your healthcare professional may find the following resources about RECQL4 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 RECQL4 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 RECQL4?
ATP ; cell ; cell division ; cleft palate ; craniosynostosis ; DNA ; DNA replication ; double helix ; exon ; gene ; genome ; helicase ; intestine ; molecule ; mutation ; palate ; protein ; short stature ; splice-site mutation ; stature ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 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.