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CASK - calcium/calmodulin dependent serine protein kinase
- Synonym(s) : CAGH39, FGS4, LIN2
- Previous symbols and names : TNRC8, calcium/calmodulin-dependent serine protein kinase (MAGUK family), trinucleotide repeat containing 8
- Type : gene with protein product
- Chromosomal location : Xp11.4
- OMIM: 300172
- HGNC: 1497
- UniProtKB: O14936
- Genatlas: CASK
- GenCC: CASK
- Ensembl: ENSG00000147044
- IUPHAR-DB: 1959
- Reactome: O14936
- LOVD: CASK
Diseases list
- Disease-causing germline mutation(s) in NON RARE IN EUROPE: FG syndrome phenotypic spectrum
ORPHA:323 
- Disease-causing germline mutation(s) in X-linked intellectual disability, Najm type
ORPHA:163937 - Disease-causing germline mutation(s) (loss of function) in Early infantile epileptic encephalopathy
ORPHA:1934
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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