SOX9 has a role in sex determination and differentiation of Sertoli cells. It is involved in chondrogenesis and regulates the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genes. Translocation of this gene can cause campomelic dysplasia. SOX9 is involved in the formation of testes from the indifferent fetal gonads. It is a major molecular component of the neuron-glia switch in developing spinal cord. During normal development, SOX9 allows the prostate epithelium to outgrow into the mesenchyme and then provides basal cell support for development and maintenance of the luminal epithelium. These functions of SOX9 are subverted in prostate cancer to support tumor growth and invasion. SOX9 may direct the formation of neural crest precursors and the development of a range of neural crest derivative. It has a transcriptional regulation in melanin production in cells. Northern blot analysis shows its expression on adult testis, adult heart, and fetal brain.
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Protein Aliases: SOX 9; SRY (sex determining region Y)-box 9; SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal); SRY (sex determining region Y)-box9; SRY (sex-determining region Y)-box 9 protein; SRY box 9; SRY-Box 9 ; SRY-box containing gene 9; SRY-related HMG-box, gene 9; Transcription factor SOX-9
Gene Aliases: 2010306G03Rik; AV220920; CMD1; CMPD1; mKIAA4243; Sox-9; SOX9; SRA1; SRXX2; SRXY10