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CDD is a rare condition although >1,000 cases have been reported worldwide; 80-90% of the cases are female [4] While originally classified as an atypical variant of Rett syndrome, CDKL5 Deficiency Disorder (CDD) is an independent disorder and results from a pathogenic variant in a different gene (CDKL5 in CDD; MECP2 in Rett).
12568 Ensembl ENSG00000164885 ENSMUSG00000028969 UniProt Q00535 P49615 RefSeq (mRNA) NM_001164410 NM_004935 NM_007668 RefSeq (protein) NP_001157882 NP_004926 NP_031694 Location (UCSC) Chr 7: 151.05 – 151.06 Mb Chr 5: 24.62 – 24.63 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Cyclin-dependent kinase 5 is a protein, and more specifically an enzyme, that is encoded by the Cdk5 ...
The CDKL5 protein acts as a kinase, which is an enzyme that modulates the activity of other proteins by adding a phosphate group to specific positions. The CDKL5 protein regulates neuronal morphology through cytoplasmic signaling and by controlling gene expression, playing a crucial role in the development and maintenance of the nervous system.
Soticlestat (TAK-935, OV-935) is an experimental anticonvulsant and cholesterol 24-hydroxylase inhibitor being investigated as a treatment for Dravet syndrome, Lennox–Gastaut syndrome, tuberous sclerosis complex, dup15q syndrome, and CDKL5 deficiency disorder. [1] [2] The development rights to the drug were purchased by Takeda Pharmaceuticals ...
Ganaxolone, sold under the brand name Ztalmy, is a medication used to treat seizures in people with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder. [1] [3] Ganaxolone is a neuroactive steroid gamma-aminobutyric acid (GABA) A receptor positive modulator.
Cyclin-dependent kinase 2, also known as cell division protein kinase 2, or Cdk2, is an enzyme that in humans is encoded by the CDK2 gene. [ 5 ] [ 6 ] The protein encoded by this gene is a member of the cyclin-dependent kinase family of Ser/Thr protein kinases .
The activation forms a cyclin-CDK complex which phosphorylates specific regulatory proteins that are required to initiate steps in the cell-cycle. [5] Schematic of CDKs/cyclins the cell cycle. M = Mitosis; G1 = Gap phase 1; S = Synthesis; G2 = Gap phase 2 (Created with BioRender.com).
Cyclin-dependent kinase-like 2 is an enzyme that in humans is encoded by the CDKL2 gene. [ 5 ] [ 6 ] This gene product is a member of a large family of CDC2-related serine/threonine protein kinases.