Aliases for TCOF1 Gene
External Ids for TCOF1 Gene
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]
GeneCards Summary for TCOF1 Gene
TCOF1 (Treacher Collins-Franceschetti Syndrome 1) is a Protein Coding gene. Diseases associated with TCOF1 include treacher collins syndrome 1 and tcof1-related treacher collins syndrome. Among its related pathways are Ribosome biogenesis in eukaryotes. GO annotations related to this gene include transporter activity.
UniProtKB/Swiss-Prot for TCOF1 Gene
May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic development, particularly in development of the craniofacial complex (By similarity). May participate in certain stages of ribosome biogenesis.