| Entrez gene ID | | 6949 |
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| Official gene symbol | | TCOF1 |
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| Full name | | Treacher Collins-Franceschetti syndrome 1 |
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| Aliases | | ,MFD1,treacle, |
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| Gene 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] |
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| Location | | Chromosome: 5 Locus: 5q32-q33.1 |
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| Gene position | | 149737202 - 149779871 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 42670 bp |
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| Gene sequence |
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| OMIM ID | | 606847 |
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