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FLASH GENE

Symbol

CASK

contributors: shn - updated : 30-08-2018

HGNC name	calcium/calmodulin-dependent serine protein kinase (MAGUK family)
HGNC id	1497

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

FGS4 , MICPCH

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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