POLR2C Chromosome 16

RNA polymerase II subunit C

2 variants 2 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

RNA polymerase subunits

Locus Type

gene with protein product

Location

16q21

Ensembl

ENSG00000102978

Associated Conditions (1)

Genetic non-acquired premature ovarian failure

Key Variants

RS770336099

Likely pathogenic

Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure

Health Risk

RS901733146

Likely pathogenic

Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS770336099	Health Risk	Likely pathogenic	Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS901733146	Health Risk	Likely pathogenic	Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure