TCOF1 treacle ribosome biogenesis factor 1
Gene ID: 6949, updated on 19-Sep-2024Gene type: protein coding
Also known as: TCS; MFD1; TCS1; treacle
- See all available tests in GTR for this gene
- Go to complete Gene record for TCOF1
- Go to Variation Viewer for TCOF1 variants
Summary
This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Treacher Collins syndrome 1 | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-28) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2021-04-28) ClinGen Genome Curation Page |
Genomic context
- Location:
- 5q32-q33.1
- Sequence:
- Chromosome: 5; NC_000005.10 (150357697..150400293)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TCOF1 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
- TCOF1 database
- Variation ViewerRelated Variants
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