Most patients identified have a loss-of-function mutation in ZNF711. A single family (MRX65) with a p.(Ile244Thr) missense mutation has been described. The exact function of ZNF711 has not been clarified yet, but it belongs to a class of Cys2His2 zinc finger proteins known to function as a transcription factor by binding to specific DNA sequences. ZNF711 contains two Zfx/Zfy transcription activation regions and 12 C2H2-like domains. Zfx/Zfy transcription activation regions are often found N-terminal to multiple copies of a C2H2 Zinc finger and have been shown to activate transcription. C2H2 domains are classical zinc fingers, in which two cysteine and two histidine residues coordinate a zinc ion. In vitro analysis of the promoter of the KDM5C revealed that ZNF711, along with ARX, function as antagonist transcription factors that activate KDM5C expression and compete for the recruitment of PHF8.
ZNF711