POLR1C RNA polymerase I and III subunit C
Gene ID: 9533, updated on 4-Aug-2024Gene type: protein coding
Also known as: AC40; RPA5; TCS3; HLD11; RPA39; RPA40; RPAC1; RPC40
- See all available tests in GTR for this gene
- Go to complete Gene record for POLR1C
- Go to Variation Viewer for POLR1C variants
Summary
The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Associated conditions
Genomic context
- Location:
- 6p21.1
- Sequence:
- Chromosome: 6; NC_000006.12 (43517089..44461400)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for POLR1C 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
- POLR1C @ LOVD
- 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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