TCOF1
Treacher Collins-Franceschetti syndrome 1
Sinónimos:
MFD1, TCS1, treacle
Especie:
Human TCOF1 (6949), Mouse Tcof1 (21453), Rat Tcof1 (291571), chicken TCOF1 (416276), dog TCOF1 (403592), Horse TCOF1 (100060348), domestic cat TCOF1 (101083909), cow TCOF1 (513591), sheep TCOF1 (101110509), naked mole-rat Tcof1 (101707739)
ID UniProtKB:
ID del gen:
- Human(6949) 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]
- Mouse(21453) Treacher Collins Franceschetti syndrome 1, homolog
- Rat(291571) Treacher Collins-Franceschetti syndrome 1
- chicken(416276) Treacher Collins-Franceschetti syndrome 1
- dog(403592) Treacher Collins-Franceschetti syndrome 1
- Horse(100060348) Treacher Collins-Franceschetti syndrome 1
- domestic cat(101083909) Treacher Collins-Franceschetti syndrome 1
- cow(513591) Treacher Collins-Franceschetti syndrome 1
- sheep(101110509) Treacher Collins-Franceschetti syndrome 1
- naked mole-rat(101707739) Treacher Collins-Franceschetti syndrome 1
- domestic guinea pig(100735220) Treacher Collins-Franceschetti syndrome 1
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