SATB1

The protein functions as a transcriptional repressor that binds to AT-rich DNA sequences at matrix attachment regions and recruits chromatin-remodeling factors to regulate gene expression, playing essential roles in T-cell maturation, globin gene switching, and neuronal differentiation. Mutations cause den Hoed-de Boer-Voisin syndrome and developmental delay with dysmorphic facies and dental anomalies through an autosomal dominant inheritance pattern. The gene is highly intolerant to loss-of-function variants, and mutations can cause disease predominantly through haploinsufficiency mechanisms.