TCOF1

Treacle protein ;
Treacher Collins syndrome protein ;

disease:Defects in TCOF1 are the cause of Treacher Collins syndrome (TCS) [MIM:154500]. TCS is an autosomal dominant disorder of craniofacial development that occurs with an incidence of 1/50,000 live births. The clinical features of TCS are bilaterally symmetrical and include: (1) abnormalities of the external ears, atresia of the external ear canals, and malformation of the middle ear ossicles, which may result in conductive hearing loss; (2) lateral downward sloping of palpebral fissures, frequently with colobomas of the lower eyelids; (3) hypoplasia of the mandible and zygomatic complex; (4) cleft palate.,function:May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic development, particularly in development of the craniofacial complex.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 1 LisH domain.,

skeletal system development, transcription, transcription, DNA-dependent, transcription from RNA polymerase I promoter, rRNA transcription, RNA biosynthetic process, transcription of nuclear rRNA large RNA polymerase I transcript,

Nucleus, nucleolus .