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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.
The value 2.66 is obtained by dividing 3 by the sample size-specific d 2 anti-biasing constant for n=2, as given in most textbooks on statistical process control (see, for example, Montgomery [2]: 725 ).
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.
The simplest form of a group-contribution method is the determination of a component property by summing up the group contributions : [] = +.This simple form assumes that the property (normal boiling point in the example) is strictly linearly dependent on the number of groups, and additionally no interaction between groups and molecules are assumed.
HIPO model (hierarchical input process output model) is a systems analysis design aid and documentation technique from the 1970s, [1] used for representing the modules of a system as a hierarchy and for documenting each module.