CDKL5 [SEP] chromosome
treating nonsense mutations in Duchenne muscular dystrophy. Finally a CDKL5 protein replacement therapy is in development.
Location.
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 also.
- Cyclin-dependent kinase
- Rett syndrome
- West syndrome
External links.
- Cure CDKL5 Disorder resources for Families and Professionals - based in the UK
CDKL5 UK
CDKL5UK is a UK-based charity that has been set up to raise awareness and funds for the global CDKL5 research effort.
About CDKL5 UK.
About CDKL5 UK Mission.
Money raised for CDKL5 UK will be put towards key aims which are to promote relief, care and services to promote health, for persons suffering from and affected by CDKL5, in particular by:
- Funding research worldwide for treating the symptoms, including epilepsy, and research into the genetic cause of CDKL5 and disseminating or publishing