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 (USF). 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]
Function:
May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic development, particularly in development of the craniofacial complex.
Subcellular Location:
Nucleus, nucleolus.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE:
Defects in TCOF1 are the cause of Treacher Collins syndrome type 1 (TCS1) [MIM:154500]. It is a form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.
Similarity:
Contains 1 LisH domain.
SWISS:
Q13428
Gene ID:
6949
Database links:
Entrez Gene: 6949 Human
Entrez Gene: 21453 Mouse
Omim: 154500 Human
SwissProt: Q13428 Human
SwissProt: O08784 Mouse
Unigene: 519672 Human
Unigene: 605019 Human
Unigene: 2215 Mouse
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