TCOF1 蛋白
(Treacher Collins-Franceschetti Syndrome 1 (TCOF1))
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].
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TCOF1
宿主: 人
宿主: 大肠杆菌（E. Coli）
Recombinant
Greater than 90 % as determined by SDS-PAGE.
ELISA, WB
Aliases for TCOF1 蛋白
treacle ribosome biogenesis factor 1 (Tcof1) 蛋白treacle ribosome biogenesis factor 1 (TCOF1) 蛋白
AA408847 蛋白
AW209012 蛋白
MFD1 蛋白
TCOF1 蛋白
TCS1 蛋白
treacle 蛋白
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