Mutations of the PHF6 gene are linked with Börjeson-Forssman-Lehmann syndrome (BFLS).
PHF6 regulates transcription via interactions with the PAF1 complex, NuRD complex, and UBF.
miR-128 controls neuronal positioning by inhibiting PHF6 in the cerebral cortex.
Deregulation of the PHF6/PAF1 complex triggers formation of white matter heterotopia.