Rabbit anti-Human SOX9 Polyclonal Antibody

Uniprot Id

P48436

Target Species

Human

Target Name

SOX9

Target Full Name

Transcription factor SOX-9

Target Function

Transcription factor that plays a key role in chondrocytes differentiation and skeletal development. Specifically binds the 5'-ACAAAG-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes COL2A1, COL4A2, COL9A1, COL11A2 and ACAN, SOX5 and SOX6. Also binds to some promoter regions. Plays a central role in successive steps of chondrocyte differentiation. Absolutely required for precartilaginous condensation, the first step in chondrogenesis during which skeletal progenitors differentiate into prechondrocytes. Together with SOX5 and SOX6, required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes, the second step in chondrogenesis. Later, required to direct hypertrophic maturation and block osteoblast differentiation of growth plate chondrocytes: maintains chondrocyte columnar proliferation, delays prehypertrophy and then prevents osteoblastic differentiation of chondrocytes by lowering beta-catenin (CTNNB1) signaling and RUNX2 expression. Also required for chondrocyte hypertrophy, both indirectly, by keeping the lineage fate of chondrocytes, and directly, by remaining present in upper hypertrophic cells and transactivating COL10A1 along with MEF2C. Low lipid levels are the main nutritional determinant for chondrogenic commitment of skeletal progenitor cells: when lipids levels are low, FOXO (FOXO1 and FOXO3) transcription factors promote expression of SOX9, which induces chondrogenic commitment and suppresses fatty acid oxidation. Mechanistically, helps, but is not required, to remove epigenetic signatures of transcriptional repression and deposit active promoter and enhancer marks at chondrocyte-specific genes. Acts in cooperation with the Hedgehog pathway-dependent GLI (GLI1 and GLI3) transcription factors. In addition to cartilage development, also acts as a regulator of proliferation and differentiation in epithelial stem/progenitor cells: involved in the lung epithelium during branching morphogenesis, by balancing proliferation and differentiation and regulating the extracellular matrix. Controls epithelial branching during kidney development.

Target Involvement

Campomelic dysplasia (CMD1); 46,XX sex reversal 2 (SRXX2); 46,XY sex reversal 10 (SRXY10)

Target Subcellular Location

Nucleus.

Target Research Area

Developmental Biology

Target Synonyms

campomelic dysplasia autosomal sex reversal; CMD 1; CMD1; CMPD 1; CMPD1; SOX 9; Sox9; SOX9_HUMAN; SRA 1; SRA1; SRXX2; SRXY10; SRY (sex determining region Y) box 9 (campomelic dysplasia autosomal; SRY (sex determining region Y) box 9; SRY (sex determining region Y)-box 9; SRY (sex-determining region Y)-box 9 protein; SRY related HMG box gene 9; Transcription factor SOX 9; Transcription factor SOX-9; transcription factor SOX9

Target Background

The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal.