TCOF1
Information TCOF1
- Description
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]
- Full Name
treacle ribosome biogenesis factor 1
- Source NCBI
ReMap Statistics
- Datasets
- 1
- Biotypes
- 1
- Peaks
- 283
- Non-redundant peaks
- 283
TF Classification
- Super Class
- NA
- Class
- NA
- Familly
- NA
- Sub Familly
- NA
Source TFClass
External IDs
- JASPAR
- Ensembl
- ENSG00000070814
- UniProt
- Q13428
- Genevisible
- Q13428
- RefSeq
- NM_000356
- Aliases
- MFD1; TCS; TCS1; treacle