SATB2 [SEP] found in taxon
to 5% of non-syndromic oral cleft.
Mutations in the SATB2 gene have been found to cause isolated cleft palates. SATB2 also likely influences brain development. This is consistent with mouse studies that show SATB2 is necessary for proper establishment of cortical neuron connections across the corpus callosum, despite the apparently normal corpus callosum in heterozygous knockout mice.
Structure.
SATB2 is a 733 amino-acid homeodomain-containing human protein with a molecular weight of 82.5 kDa encoded by the "SATB2" gene on 2q33. The
Wiki.
So far, a number of genes have been found to play a role in craniofacial development and the FaceBase project is continuing to research these genes to better understand craniofacial birth defects such as cleft lip and palate. These genes include AXIN2, BMP4, FGFR1, FGFR2, FOXE1, IRF6, MAFB (gene), MMP3, MSX1, MSX2 (Msh homeobox 2), MSX3, PAX7, PDGFC, PTCH1, SATB2, SOX9, SUMO1 (Small ubiquitin-related modifier 1), TBX22, TCOF (