The gene sox2 encodes an hmg-box transcription factor protein localized to the nucleus. Its functions include maintaining pluripotency in blastula stem cells and specifying neural cell fate during gast...[+]

The gene sox2 encodes an hmg-box transcription factor protein localized to the nucleus. Its functions include maintaining pluripotency in blastula stem cells and specifying neural cell fate during gastrulation and neurulation. The protein is involved in patterning the anterior central nervous system, including the forebrain, midbrain, and hindbrain regions. It contributes to the development of the neural plate, neural tube, and sensory placodes. sox2 is necessary for eye formation, particularly in the specification of the optic vesicle and lens induction. It also functions in craniofacial development and is expressed in the cement gland. [-]

             esophageal atresia/tracheoesophageal fistula
             microphthalmia
             syndromic microphthalmia 3

          TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA

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