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FLASH GENE
Symbol CDK5 contributors: mct/pgu/shn - updated : 24-06-2020
HGNC name cyclin-dependent kinase 5
HGNC id 1774
ASSOCIATED DISORDERS
corresponding disease(s) LIS7
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in Alzheimer disease (cycling neurons are characterized by a predominantly cytoplasmic distribution of CDK5)
constitutional     --other  
dysregulation dramatically affects striatal-dependent brain function and may be relevant to non-neurodegenerative disorders involving dopamine neurotransmission
constitutional       loss of function
results in abnormal development of the nervous system accompanied by massive disruptions in cortical migration and lamination, therefore impacting synaptic activity
constitutional       gain of function
in several neurodegenerative diseases where Golgi disassembly also occurs, this may be a common mechanism among multiple disorders
constitutional     --over  
significantly increased in AD, leading to nuclear envelope dispersion and contributing to all three hallmarks: neurotoxic amyloid-beta (Abeta), neurofibrillary tangles (NFT), and extensive cell death
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
neurologyneurodegenerativealzheimer
CDK5 is an effective therapeutic target for AD
ANIMAL & CELL MODELS
  • Cdk5(-/-) mice exhibit unique lesions in the central nervous system associated with perinatal mortality
  • cdk5-deficient cultured cortical neurons exhibit increased sensitivity to apoptotic stimuli, and elevated JNK3 activity and c-Jun phosphorylation
  • Sema3A-induced growth cone collapse responses were attenuated in cdk5-deficient mice
  • Cdk5 conditional knockout mice with restricted deletion of the Cdk5 gene in specific neurons display neuronal migration defects
  • Cdk5-/- mice display morphological abnormalities at the neuromuscular junction pre- and postsynaptically