cyclin dependent kinase like 5
Última actualización 20 Mar 2023
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El CDKL5 gene provides instructions for making a protein that is found in cells and tissues throughout the body. However, it is most active in the brain and is essential for normal brain development and function. There are five versions (isoforms) of the CDKL5 protein. These isoforms vary in length and in the tissues in which they are most abundant.
Normal function
El CDKL5 gene provides instructions for making a protein that is found in cells and tissues throughout the body. However, it is most active in the brain and is essential for normal brain development and function. There are five versions (isoforms) of the CDKL5 protein. These isoforms vary in length and in the tissues in which they are most abundant.
Studies suggest that the CDKL5 protein is involved in the formation, growth, and movement (migration) of nerve cells (neurons), as well as cell division. It also plays a role in the transmission of chemical signals at the connections (synapses) between neurons.
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. It is possible that one of the proteins targeted by the CDKL5 protein is MeCP2, which is produced from the MECP2 gene. The MeCP2 protein plays important roles in the function of neurons and other brain cells and in the maintenance of neuronal synapses. Researchers have not determined which other proteins are targeted by the CDKL5 protein.
Conditions referring to this gene or chromosome
Otros nombres
CDKL5_HUMAN
CFAP247
cyclin-dependent kinase-like 5
serine/threonine kinase 9
STK9
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Lecturas adicionales y referencias
- cyclin dependent kinase like 5; MedlinePlus, National Library of Medicine.
- Bahi-Buisson N, Bienvenu T. CDKL5-Related Disorders: From Clinical Description to Molecular Genetics. Mol Syndromol. 2012 Apr;2(3-5):137-152. doi: 10.1159/000331333. Epub 2011 Sep 13.
- Bahi-Buisson N, Villeneuve N, Caietta E, Jacquette A, Maurey H, Matthijs G, Van Esch H, Delahaye A, Moncla A, Milh M, Zufferey F, Diebold B, Bienvenu T. Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. Am J Med Genet A. 2012 Jul;158A(7):1612-9. doi: 10.1002/ajmg.a.35401. Epub 2012 Jun 7.
- Barbiero I, Valente D, Chandola C, Magi F, Bergo A, Monteonofrio L, Tramarin M, Fazzari M, Soddu S, Landsberger N, Rinaldo C, Kilstrup-Nielsen C. CDKL5 localizes at the centrosome and midbody and is required for faithful cell division. Sci Rep. 2017 Jul 24;7(1):6228. doi: 10.1038/s41598-017-05875-z.
- Fehr S, Wilson M, Downs J, Williams S, Murgia A, Sartori S, Vecchi M, Ho G, Polli R, Psoni S, Bao X, de Klerk N, Leonard H, Christodoulou J. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet. 2013 Mar;21(3):266-73. doi: 10.1038/ejhg.2012.156. Epub 2012 Aug 8.
- Hector RD, Dando O, Landsberger N, Kilstrup-Nielsen C, Kind PC, Bailey ME, Cobb SR. Characterisation of CDKL5 Transcript Isoforms in Human and Mouse. PLoS One. 2016 Jun 17;11(6):e0157758. doi: 10.1371/journal.pone.0157758. eCollection 2016.
- Hector RD, Kalscheuer VM, Hennig F, Leonard H, Downs J, Clarke A, Benke TA, Armstrong J, Pineda M, Bailey MES, Cobb SR. CDKL5 variants: Improving our understanding of a rare neurologic disorder. Neurol Genet. 2017 Dec 15;3(6):e200. doi: 10.1212/NXG.0000000000000200. eCollection 2017 Dec.
- Valli E, Trazzi S, Fuchs C, Erriquez D, Bartesaghi R, Perini G, Ciani E. CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells. Biochim Biophys Acta. 2012 Nov-Dec;1819(11-12):1173-85. doi: 10.1016/j.bbagrm.2012.08.001. Epub 2012 Aug 19.
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