SOX9

Transcription factor SOX-9

disease:Defects in SOX9 are the cause of campomelic dysplasia (CMD1) [MIM:114290]. 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.,function: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.,similarity:Contains 1 HMG box DNA-binding domain.,

cell morphogenesis, cell morphogenesis involved in differentiation, skeletal system development, cartilage condensation, cell fate specification, epithelial to mesenchymal transition, hair follicle development, reproductive developmental process, transcription, regulation of transcription, DNA-dependent, regulation of transcription from RNA polymerase II promoter, cell adhesion, ectoderm development, heart development, sex determination, primary sex determination, germ-line, sex differentiation, gonad development, epidermis development, male gonad development,negative regulation of biosynthetic process, positive regulation of biosynthetic process, positive regulation of macromolecule biosynthetic process, negative regulation of macromolecule biosynthetic process, positive regulation of macromolecule metabolic process, negative regulation of macromolecule metabolic process, positive regulation of gene expression, negative regulation of gene expression, regulation of cell death, mesenchymal cell development, neural crest cell development, neural crest cell differentiation, cell-cell adhesion, negative regulation of transcription, germ-line sex determination, male germ-line sex determination, molting cycle process, hair cycle process, biological adhesion, male sex determination, regulation of ossification, negative regulation of ossification, regulation of bone mineralization, negative regulation of bone mineralization, negative regulation of cellular biosynthetic process, positive regulation of cellular biosynthetic process, regulation of chondrocyte differentiation, negative regulation of chondrocyte differentiation, cellular component morphogenesis, regulation of cell proliferation, molting cycle, hair cycle,regulation of apoptosis, regulation of programmed cell death, development of primary sexual characteristics, cell fate commitment, regulation of transcription, negative regulation of cell differentiation, negative regulation of transcription, DNA-dependent, positive regulation of transcription, DNA-dependent, negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process, positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process, positive regulation of transcription, positive regulation of transcription from RNA polymerase II promoter, development of primary male sexual characteristics, male sex differentiation, reproductive structure development, skeletal system morphogenesis, mesenchymal cell differentiation, negative regulation of nitrogen compound metabolic process, positive regulation of nitrogen compound metabolic process, cartilage development,negative regulation of multicellular organismal process, regulation of RNA metabolic process, negative regulation of RNA metabolic process, positive regulation of RNA metabolic process, bone development, bone morphogenesis,endochondral bone morphogenesis, mesenchyme development, regulation of biomineral formation, negative regulation of biomineral formation,

Nucleus .