Treacle Rabbit Polyclonal Antibody

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], 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.