Disease-gene associations mined from literature

Literature associating SOX3 and 46,XX sex reversal

SOX3 [ENSP00000359567]

SRY (sex determining region Y)-box 3; Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity); SRY-boxes

Synonyms:  SOX3,  SOX3p,  hSOX3,  P41225,  P41225p ...

Linkouts:  STRING  Pharos  UniProt  OMIM