SRY [sex-determining region Y]-box 9 (SOX9) has a molecular weight of approximately 56 kDa. This transcription factor is expressed in various tissues during embryonic development, including the neural tube, notochord, and developing cartilage. In adults, SRY [sex-determining region Y]-box 9 expression continues in specific tissues, such as cartilage, the brain, and some reproductive tissues.
Mutations or dysregulation of SOX9 are associated with various congenital disorders, particularly those affecting skeletal development. For example, Campomelic dysplasia is a genetic disorder characterized by skeletal abnormalities and is often caused by mutations in the SRY [sex-determining region Y]-box 9 gene. It is also implicated in certain types of cancer, including chondrosarcoma.
Antibodies against SOX9 are used in research to study the expression and localization of SRY [sex-determining region Y]-box 9 in tissues and cells. In cancer research, these antibodies can help identify the presence and abundance of SOX9 in tumor samples, aiding in diagnosis and prognosis. Additionally, its expression can have diagnostic implications in certain conditions, such as congenital skeletal disorders.
Synonyms
Transcription factor SOX-9, Campomelic Dysplasia Autosomal Sex Reversal (CMD1); SRA1; SRXX2; SRY (sex determining region Y) box 9; SRY related HMG box gene 9; Transcription factor SOX9
Research Areas
Cardiovascular, Developmental Biology, Mesenchymal Stem Cell Differentiation, Neural Stem Cells, Nuclear Marker, Signal Transduction, Stem Cell Differentiation, Transcription Factors
