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 .