POLR1A RNA polymerase I subunit A
Gene ID: 25885, updated on 3-Nov-2024Gene type: protein coding
Also known as: A190; RPA1; HLD27; RPO14; AFDCIN; RPA190; RPA194; RPO1-4
- See all available tests in GTR for this gene
- Go to complete Gene record for POLR1A
- Go to Variation Viewer for POLR1A variants
Summary
The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Acrofacial dysostosis Cincinnati type | See labs |
| Leukodystrophy, hypomyelinating, 27 | not available |
Genomic context
- Location:
- 2p11.2
- Sequence:
- Chromosome: 2; NC_000002.12 (86020216..86105886, complement)
- Total number of exons:
- 34
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for POLR1A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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