Total SOX9 Cell-Based Colorimetric ELISA Kit
- 货号：KA4286C
- 应用：ELISA
- 种属：Human;Mouse
- 其他名称：
- Transcription factor SOX-9
- 背景：
- 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.,
- 功能：
- 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 regul
