Members of the SALL gene family encode putative zinc finger transcription factors highly expressed during development. Sall4 is expressed very early in development with other pluripotency regulators, such as Oct-4 and Nanog. Sall4 works as a master regulator that controls its own expression and the expression of Oct-4 in a transcriptional regulation feedback loop governing stem cell pluripotency and stem cell fate. In addition, mutations in Sall4 have been implicated in human malformation syndromes including Duane-radial ray syndrome (Okihiro syndrome) and Acro-renal-ocular syndrome.
