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FLASH GENE
Symbol CASK contributors: shn - updated : 30-08-2015
HGNC name calcium/calmodulin-dependent serine protein kinase (MAGUK family)
HGNC id 1497
ASSOCIATED DISORDERS
corresponding disease(s) FGS4 , MICPCH
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
coordinate overexpression of CASK and RELN in carcinoma of esophagus
constitutional   deletion    
results in haploinsufficiency, which might be causative for developmental delay or mental retardation
constitutional germinal mutation      
associated to congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia, and severe mental retardation
constitutional germinal mutation      
XLMR
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • CASK knockdown mice are viable but smaller than WT mice, whereas CASK KO mice die at first day after birth without major developmental abnormalities except a partially penetrant cleft palate syndrome