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CDK19

Involvement in disease

Developmental and epileptic encephalopathy 87

DEE87

A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE87 inheritance is autosomal dominant.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.

Cellular localization

Alternative names

CDC2L6, CDK11, KIAA1028, CDK19, Cyclin-dependent kinase 19, CDC2-related protein kinase 6, Cell division cycle 2-like protein kinase 6, Cell division protein kinase 19, Cyclin-dependent kinase 11, Death-preventing kinase

swissprot:Q9BWU1 omim:614720 entrezGene:23097