POLR2C

Chr 16

RNA polymerase II subunit C

Also known as: RPB3, RPB31, hRPB33, hsRPB3

NCBI Gene: 5432 ENSG00000102978 UniProt: P19387 OMIM: 180663

This gene encodes the third largest subunit of RNA polymerase II, which synthesizes messenger RNA and many functional non-coding RNAs from DNA templates. Mutations in POLR2C have not been definitively associated with human disease, though the protein is essential for RNA polymerase II function as a core component that forms a heterodimer with POLR2J.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.74

LOEUF

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Mechanism