Gene Symbol | TCOF1 |
Entrez Gene ID | 6949 |
Full Name | treacle ribosome biogenesis factor 1 |
Synonyms | MFD1,TCS,TCS1,treacle |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Treacher Collins syndrome 1, 154500 (3) |