TCOF1 protein is required during embryonic development for proper nucleolar-cytoplasmic trafficking in branchial arches-derived tissues. Loss of function mutations in the TCOF1 or Treacle gene lead to the Treacher Collins Syndrome, an autosomal dominant disease characterized by malformations of the mandibulofacial region. Affected patients suffer from cranofacial deformity such as cleft palate and hearing loss. The mouse gene is widely expressed.
|Gene Name:||Treacher Collins-Franceschetti syndrome 1|
|Synonyms:||TCOF1, Treacle, MFD1, TCS1, Treacle protein|
|Target Sequences:||NM_000356 NP_000347.2 Q13428|
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