| Treacher Collins-Franceschetti syndrome 1 | OKDB#: 3646 |
| Symbols: | TCOF1 | Species: | human | ||
| Synonyms: | MFD1, treacle,TREACLE | Locus: | 5q32-q33.1 in Homo sapiens |
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| General Comment | NCBI 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. Alternate transcriptional splice variants encoding different isoforms have been found for this gene, but only three of them have been characterized to date. | ||||
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| Cellular localization | Nuclear | ||||
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| Ovarian localization | Oocyte | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Nov. 1, 2006, 4:40 p.m. | by: |
amazinmazin email:
home page: |
| last update: | Nov. 1, 2006, 4:43 p.m. | by: | amazinmazin email: |
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