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MIM.602630 MG:5

Monday 23 June 2008

TGIF1 belongs to a family of evolutionarily conserved, atypical homeodomain proteins that act as transcriptional repressors and corepressors in retinoid and transforming growth factor (TGFB - MIM.190180) signaling pathways.


- germline mutations in holoprosencephaly-4 (MIM.142946)

See also



- Aguilella, C.; Dubourg, C.; Attia-Sobol, J.; Vigneron, J.; Blayau, M.; Pasquier, L.; Lazaro, L.; Odent, S.; David, V. : Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. Hum. Genet. 112: 131-134, 2003. PubMed ID : 12522553