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TGIF1 is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described.
Gene Name: | TGFB-induced factor homeobox 1 |
Synonyms: | TGIF1, 5'-tg-3' interacting factor, 5-TG-3 interacting factor, 5-TG-3-interacting factor 1, Homeobox protein TGIF, Homeobox protein TGIF1, HPE4, TGFB-induced factor homeobox 1, TGIF |
Target Sequences: | NM_003244 NP_003235.1 Q15583 |
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