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Reviewed December 2013
What is the official name of the CDKL5 gene?
The official name of this gene is “cyclin-dependent kinase-like 5.”
CDKL5 is the gene's official symbol. The CDKL5 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 CDKL5 gene?
The CDKL5 gene provides instructions for making a protein that is essential for normal brain function. The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding a cluster of oxygen and phosphorus atoms (a phosphate group) at specific positions. One of the proteins targeted by the CDKL5 protein is MeCP2, which plays important roles in the function of nerve cells (neurons) and in the maintenance of connections (synapses) between neurons. Researchers have not determined which other proteins are targeted by the CDKL5 protein.
Does the CDKL5 gene share characteristics with other genes?
The CDKL5 gene belongs to a family of genes called CDK (cyclin-dependent kinases).
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? in the Handbook.
How are changes in the CDKL5 gene related to health conditions?
Where is the CDKL5 gene located?
Cytogenetic Location: Xp22
Molecular Location on the X chromosome: base pairs 18,443,724 to 18,671,748
The CDKL5 gene is located on the short (p) arm of the X chromosome at position 22.
More precisely, the CDKL5 gene is located from base pair 18,443,724 to base pair 18,671,748 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CDKL5?
You and your healthcare professional may find the following resources about CDKL5 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 CDKL5 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 CDKL5?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 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.