Plays an important role in the normal skeletal development. May regulate the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genes. Defects in SOX9 are the cause of campomelic dysplasia (CMD1). CMD1 is a rare, often lethal, dominantly inherited, congenital osteochondrodysplasia, associated with male- to-female autosomal sex reversal in two-thirds of the affected karyotypic males. A disease of the newborn characterized by congenital bowing and angulation of long bones, unusually small scapulae, deformed pelvis and spine and a missing pair of ribs. Craniofacial defects such as cleft palate, micrognatia, flat face and hypertelorism are common. Various defects of the ear are often evident, affecting the cochlea, malleus incus, stapes and tympanum. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Defects in SOX9 are the cause of 46,XX sex reversal type 2 (SRXX2). SRXX2 is a condition in which male gonads develop in a genetic female (female to male sex reversal). Note: This description may include information from UniProtKB.
Protein type: Transcription factor; DNA binding protein
Chromosomal Location of Human Ortholog: 17q24.3
Cellular Component: transcription factor complex; protein complex; nucleolus; nucleus
Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; protein binding; beta-catenin binding; bHLH transcription factor binding; chromatin binding; transcription factor activity; protein kinase activity
Biological Process: prostate gland development; extracellular matrix organization and biogenesis; somatic stem cell maintenance; positive regulation of transcription, DNA-dependent; astrocyte fate commitment; negative regulation of chondrocyte differentiation; notochord development; protein amino acid phosphorylation; regulation of apoptosis; negative regulation of bone mineralization; hair follicle development; positive regulation of mesenchymal cell proliferation; negative regulation of ossification; tissue homeostasis; positive regulation of epithelial cell differentiation; oligodendrocyte differentiation; protein complex assembly; cartilage condensation; negative regulation of photoreceptor cell differentiation; positive regulation of phosphoinositide 3-kinase cascade; nucleosome assembly; positive regulation of chondrocyte differentiation; retina development in camera-type eye; positive regulation of protein catabolic process; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; positive regulation of epithelial cell proliferation; negative regulation of apoptosis; transcription from RNA polymerase II promoter; neural crest cell development; Sertoli cell differentiation; cell fate specification; negative regulation of immune system process; signal transduction; cAMP-mediated signaling; mammary gland development; positive regulation of cell proliferation; protein kinase B signaling cascade; otic vesicle formation; skeletal development; negative regulation of epithelial cell proliferation; epidermal growth factor receptor signaling pathway; regulation of cell adhesion; ossification; male gonad development; Sertoli cell development; endocrine pancreas development; male germ-line sex determination; regulation of cell proliferation; chromatin remodeling; limb bud formation; ureteric bud branching; cartilage development; epithelial to mesenchymal transition; spermatogenesis; positive regulation of protein amino acid phosphorylation; negative regulation of myoblast differentiation
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.