BRF1 BRF1 RNA polymerase III transcription initiation factor subunit
Gene ID: 2972, updated on 5-Mar-2024Gene type: protein coding
Also known as: BRF; CFDS; hBRF; BRF-1; GTF3B; TAF3C; TAF3B2; TF3B90; TAFIII90; TFIIIB90; HEL-S-76p
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- Go to complete Gene record for BRF1
- Go to Variation Viewer for BRF1 variants
Summary
This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cerebellar-facial-dental syndrome | See labs |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available |
Genomic context
- Location:
- 14q32.33
- Sequence:
- Chromosome: 14; NC_000014.9 (105209286..105315589, complement)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BRF1 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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