This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

  • Negative regulation of transcription by RNA polymerase II
  • In utero embryonic development
  • Inner cell mass cell proliferation
  • Neural tube closure
  • Ventricular septum development

  • Duane-radial ray syndrome
  • Ivic syndrome
  • Okihiro syndrome due to a point mutation
  • Duane retraction syndrome
  • Okihiro syndrome due to 20q13 microdeletion

Interacting Proteins for SALL4 Gene – String

Gene Location