CDKL5

CDKL5 is a gene that provides instructions for making a protein called cyclin-dependent kinase-like 5 also known as serine/threonine kinase 9 (STK9) that is essential for normal brain development. Mutations in the gene can cause deficiencies in the protein. The gene regulates neuronal morphology through cytoplasmic signaling and controlling gene expression. 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. Researchers are currently working to determine which proteins are targeted by the CDKL5 protein.

CDKL5
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCDKL5, EIEE2, ISSX, STK9, CFAP247, cyclin dependent kinase like 5, DEE2
External IDsOMIM: 300203 MGI: 1278336 HomoloGene: 55719 GeneCards: CDKL5
Orthologs
SpeciesHumanMouse
Entrez

6792

382253

Ensembl

ENSG00000008086

ENSMUSG00000031292

UniProt

O76039

Q3UTQ8

RefSeq (mRNA)

NM_001037343
NM_003159
NM_001323289

NM_001024624

RefSeq (protein)

NP_001032420
NP_001310218
NP_003150

NP_001019795

Location (UCSC)Chr X: 18.43 – 18.65 MbChr X: 159.55 – 159.78 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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.

Studies have shown that the CDKL5 protein interacts with various signaling pathways and plays a role in controlling neurotransmitter release, synaptic plasticity, and cell survival. The CDKL5 protein has also been shown to regulate the activity of genes involved in neuronal development and the formation of synaptic connections.

Researchers are actively working to better understand the role of the CDKL5 protein in brain development and the underlying mechanisms of CDKL5 disorders. Further studies are needed to determine which proteins are targeted by the CDKL5 protein, as well as to develop effective treatments for individuals affected by CDKL5 disorders.

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