POLR3F Chromosome 20
RNA polymerase III subunit F
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What This Gene Does
The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor IIIB (TFIIIB). Unlike most of the other RNA Pol III subunits, the encoded protein is unique to this polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
"RNA polymerase subunits|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
20p11.23
Ensembl
ENSG00000132664
Associated Conditions (1)
Immunodeficiency 101 (varicella zoster virus-specific)
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144099604 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759362569 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS11544222 | Health Risk | Pathogenic | Immunodeficiency 101 (varicella zoster virus-specific), Immunodeficiency 101 (varicella zoster virus-specific) |