POLR2K

Chr 8

RNA polymerase II, I and III subunit K

Also known as: ABC10-alpha, RPABC4, RPB10alpha, RPB12, RPB7.0, hRPB7.0, hsRPB10a

NCBI Gene: 5440 ENSG00000147669 UniProt: P53803

The POLR2K protein is a small subunit shared by all three RNA polymerases (I, II, and III) that catalyzes transcription of DNA into various RNA species including mRNA, ribosomal RNA, and transfer RNA. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in early infancy, characterized by severe intellectual disability, refractory seizures, and progressive microcephaly. The gene shows tolerance to loss-of-function variants in the general population, suggesting that biallelic mutations are required for disease manifestation.

ResearchSummary from RefSeq, UniProt

This gene encodes one of the smallest subunits of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.88

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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