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DEE87

Chr 6AD

cyclin dependent kinase 19

Also known as: CDC2L6, CDK11, DEE87, EIEE87, bA346C16.3

NCBI Gene: 23097 OMIM: 618916

This gene encodes a component of the Mediator co-activator complex, which is required for transcriptional activation of genes by RNA polymerase II. Mutations cause developmental and epileptic encephalopathy 87, an autosomal dominant condition characterized by early-onset seizures and developmental impairment. The protein shows similarity to cyclin-dependent kinase 8, another Mediator complex component involved in transcriptional regulation.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a protein that is one of the components of the Mediator co-activator complex. The Mediator complex is a multi-protein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

OMIM ResearchGenerating clinical summary…