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Ovarian Kaleidoscope Database (OKdb)

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Treacher Collins-Franceschetti syndrome 1 OKDB#: 3646
 Symbols: TCOF1 Species: human
 Synonyms: MFD1, treacle,TREACLE  Locus: 5q32-q33.1 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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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.
General function
Comment
Cellular localization Nuclear
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization Oocyte
Comment
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: Nov. 1, 2006, 4:40 p.m. by: amazinmazin   email:
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last update: Nov. 1, 2006, 4:43 p.m. by: amazinmazin    email:



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