• 靶点：
• Sox-9

• 简介：
• >>cAMP signaling pathway

• 基因名称：
• SOX9

• 蛋白名称：
• Transcription factor SOX-9

• Human Gene Id：
• 6662

• Human Swiss Prot No：
• P48436

• 免疫原：
• Synthesized peptide derived from human SOX9 AA range: 1-100

• 特异性：
• The antibody can specifically recognize human SOX9 protein.

• 来源：
• Mouse, Monoclonal/IgG2b, kappa

• 纯化工艺：
• The antibody was affinity-purified from ascites by affinity-chromatography using specific immunogen.

• 储存：
• 2°C to 8°C/1 year

• 背景：
• SRY-box 9(SOX9) Homo sapiens 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. [provided by RefSeq, Jul 2008],

• 功能：
• 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

• 细胞定位：
• Nuclear

• 组织表达：
• Eye,PNS,Testis,

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