POLR1B Chromosome 2
RNA polymerase I subunit B
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What This Gene Does
Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
RNA polymerase subunits
Locus Type
gene with protein product
Location
2q14.1
Ensembl
ENSG00000125630
Associated Conditions (3)
Treacher Collins syndrome 4
Treacher Collins syndrome
POLR1B-related disorder
Key Variants
RS2467555675
Likely pathogenic
Treacher Collins syndrome 4, Treacher Collins syndrome 4
Health Risk
RS1684443250
Pathogenic
Treacher Collins syndrome 4, Treacher Collins syndrome, Treacher Collins syndrome 4
Health Risk
RS1684813071
Pathogenic
Treacher Collins syndrome 4, Treacher Collins syndrome, POLR1B-related disorder
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2467555675 | Health Risk | Likely pathogenic | Treacher Collins syndrome 4, Treacher Collins syndrome 4 |
| RS1684443250 | Health Risk | Pathogenic | Treacher Collins syndrome 4, Treacher Collins syndrome, Treacher Collins syndrome 4 |
| RS1684813071 | Health Risk | Pathogenic | Treacher Collins syndrome 4, Treacher Collins syndrome, POLR1B-related disorder |