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[TGIF1_HUMAN] Septopreoptic holoprosencephaly;Semilobar holoprosencephaly;Lobar holoprosencephaly;Alobar holoprosencephaly;Midline interhemispheric variant of holoprosencephaly;Microform holoprosencephaly. The disease is caused by mutations affecting the gene represented in this entry.
Function
[TGIF1_HUMAN] Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. Active transcriptional corepressor of SMAD2. Links the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. May participate in the transmission of nuclear signals during development and in the adult, as illustrated by the down-modulation of the RXR alpha activities.
