TCOF1, Official Symbol TCOF1provided by HGNC Official Full Name treacle ribosome biogenesis factor 1provided by HGNC Primary source HGNC:HGNC:11654 See related Ensembl:ENSG00000070814 MIM:606847; AllianceGenome:HGNC:11654 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCS; MFD1; TCS1; treacle 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] Expression Ubiquitous expression in lymph node (RPKM 7.8), appendix (RPKM 6.8) and 25 other tissues See more Orthologs mouse all