| 别名 | Transcription factor SOX-9 |
| 基因名称 | Endogenous |
| 蛋白名称 | SOX9 |
| 推荐应用 | |
| 反应物种 | Sox-9 |
| 存储缓冲液 | IHC 1:200-1:1000;WB 1:500-1:1000;IF 1:200-1:1000;ELISA 1:5000-1:20000 |
| Human Swissprot No. | 6662 |
| Mouse Gene ID | P48436 |
| Mouse Swissprot No. | 20682 |
| 特异性 | Monoclonal |
| 稀释度 | Unmodified |
| 参考分子量 | 56kD |
| 预测分子量 | WB,IHC,IF,ELISA |
| 运输及保存条件 | Protein A |
| 宿主 | 70kD |
| 同种型 | Rabbit |
| 背景介绍 | 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], |
| 细胞定位 | Nucleus |
| 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 of other genes involved in chondrogenesis by acting as a transcription factor for these genes.,similarity:Contains 1 HMG box DNA-binding domain., |
| 纯化 | PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA |
| Clonality | -15°C to -25°C/1 year(Do not lower than -25°C) |
| 修饰类型 | IgG,Kappa |
| 细胞定位 | Nucleus |
| 组织表达 | Eye,PNS,Testis, |
| 研究领域 | >>cAMP signaling pathway |
周一至周日 8:00-18:00
