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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).
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.
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 ...
Proteins in the RINGO/Speedy group represent a standout bunch among proteins that don't share amino acid sequence homology with the cyclin family. They play a crucial role in activating CDKs. Originally identified in Xenopus, these proteins primarily bind to and activate CDK1 and CDK2, despite lacking homology to cyclins.
One of the four bodies handed over from Gaza to Israel on Thursday does not include a hostage, the Israel Defense Forces said, calling it a "very serious violation" by Hamas.
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.
In just a mere few days, the next biggest recruiting day on the college football calendar will take place: National Signing Day. Many, if not all, of the top 100 prospects in the 2025 recruiting ...
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 ...