CDKL5 Gene Map

CDKL5 is a gene located on the X chromosome and is expressed throughout the body. Mutations within the gene can give rise to CDKL5 disorder, which is a rare genetic condition with an array of symptoms. Being it is crucial for brain development and function, the most characteristic symptoms include early onset seizures, developmental delay, and impaired gross motor function.

There is variability in exon usage and transcript expression, giving rise to various isoforms which I illustrate in the outer most rings. If you have a specific mutation in mind, let me know and I can customize your print to note the location. The example shown is of a mutation within the exon 18.

*10% of all proceeds from this print will be donated to The International Foundation for CDKL5 Research. All donations will be made on a yearly basis, at the end of every calendar year.