基因名：
TCOF1
产品别名：
MFD1； TCS； TCS1； treacle； TCOF1； treacle ribosome biogenesis factor 1； treacle ribosome biogenesis factor 1； treacle protein； Treacher Collins syndrome protein； Treacher Collins-Franceschetti syndrome 1； nucleolar trafficking phosphoprotein； 特雷彻·柯林斯综合征/下颔骨颜面发育不全相关蛋白；
背景信息：
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]
