Human Recombinant CDKL5 protein, GST Tag (V2LY-0526-LY3069)

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Basic Information

Expressed Host
Baculovirus-Insect Cells
Protein Species
Human
Tag
GST Tag
Protein Construction
This product is Human Recombinant CDKL5 protein, GST Tag consist of Amino Acid: 1-498 and predicts a molecular mass of 84 kDa.
Molecule Mass
84 kDa
Sequence
Amino Acid: 1-498
Species
Human

Formulations & Storage [For reference only, actual COA shall prevail!]

Purity
Batch dependent.
Endotoxin
Please contact us for more information.
Format
Liquid
Buffer
PBS
Preservative
None
Storage
Store product at -70°C. For optimal storage, aliquot target into smaller quantities after centrifugation and store at recommended temperature. For most favorable performance, avoid repeated handling and multiple freeze/thaw cycles.
More Infomation

Target

Full Name
cyclin-dependent kinase-like 5
Function
Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860).
May regulate ciliogenesis (PubMed:29420175).
Biological Process
Neuron migration Source: BHF-UCL
Positive regulation of axon extension Source: BHF-UCL
Positive regulation of dendrite morphogenesis Source: BHF-UCL
Positive regulation of dendritic spine development Source: Ensembl
Positive regulation of GTPase activity Source: BHF-UCL
Protein autophosphorylation Source: HGNC-UCL
Protein phosphorylation Source: GO_Central
Regulation of cilium assembly Source: UniProtKB
Regulation of dendrite development Source: BHF-UCL
Regulation of postsynapse organization Source: SynGO
Cellular Location
Nucleus; Cilium basal body; Centrosome
Involvement in disease
Chromosomal aberrations involving CDKL5 are found in patients manifesting early-onset seizures and spams and psychomotor impairment. Translocation t(X;6)(p22.3;q14); translocation t(X;7)(p22.3;p15).
Developmental and epileptic encephalopathy 2 (DEE2): A severe form of epilepsy characterized by seizures or spasms beginning in infancy. Patients with epileptic encephalopathy early infantile type 2 manifest features resembling Rett syndrome such as microcephaly, lack of speech development, stereotypic hand movements. However, DEE2 and Rett syndrome are considered two distinct entities.
PTM
Autophosphorylated.

Tang, Y., Wang, Z. I., Sarwar, S., Choi, J. Y., Wang, S., Zhang, X., ... & Pestana-Knight, E. (2021). Brain morphological abnormalities in children with cyclin-dependent kinase-like 5 deficiency disorder. European Journal of Paediatric Neurology, 31, 46-53.

Jhang, C. L., Lee, H. Y., Chen, J. C., & Liao, W. (2020). Dopaminergic loss of cyclin-dependent kinase-like 5 recapitulates methylphenidate-remediable hyperlocomotion in mouse model of CDKL5 deficiency disorder. Human Molecular Genetics, 29(14), 2408-2419.

Katayama, S., Sueyoshi, N., Inazu, T., & Kameshita, I. (2020). Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder. Neural Plasticity, 2020.

Gao, Y., Irvine, E. E., Eleftheriadou, I., Naranjo, C. J., Hearn-Yeates, F., Bosch, L., ... & Mazarakis, N. D. (2020). Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder. Brain, 143(3), 811-832.

Katayama, S., & Inazu, T. (2019). Straightforward and rapid method for detection of cyclin-dependent kinase-like 5 activity. Analytical biochemistry, 566, 58-61.

Olson, H. E., Demarest, S. T., Pestana-Knight, E. M., Swanson, L. C., Iqbal, S., Lal, D., ... & Benke, T. A. (2019). Cyclin-dependent kinase-like 5 deficiency disorder: clinical review. Pediatric neurology, 97, 18-25.

BRC, U. G. O. S. N. (2019). Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder: clinical review Heather E. Olson Scott T. Demarest 2, Elia M. Pestana-Knight 3, Lindsay C. Swanson, Sumaiya Iqbal4, 5, Dennis Lal4, 6, Helen Leonard 7, J. Helen Cross8, Orrin Devinsky9, Tim A. Benke10 Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children’s Hospital, Boston, MA, USA.

Jhang, C. L., Huang, T. N., Hsueh, Y. P., & Liao, W. (2017). Mice lacking cyclin-dependent kinase-like 5 manifest autistic and ADHD-like behaviors. Human molecular genetics, 26(20), 3922-3934.

Oi, A., Katayama, S., Hatano, N., Sugiyama, Y., Kameshita, I., & Sueyoshi, N. (2017). Subcellular distribution of cyclin-dependent kinase-like 5 (CDKL5) is regulated through phosphorylation by dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A). Biochemical and biophysical research communications, 482(2), 239-245.

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For research use only. Not intended for any clinical use.

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