反应种属
Human,Mouse,Rat,Bovine
蛋白名称
Transcription factor SOX-9
特异性
This antibody detects endogenous levels of Sox-9
组成
The prediluted ready-to-use antibody is diluted in phosphate buffer saline containing stabilizing protein and 0.05% Proclin 300
来源
Monoclonal, Rabbit,IgG
稀释比例
Ready to use for IHC Note: For IHC, we suggest antigen retrieval with TE buffer pH 9.0
纯化工艺
Recombinant Expression and Affinity purified
储存
2°C to 8°C/1 year,Ship by ice bag
其他名称
campomelic dysplasia autosomal sex reversal ; CMD 1 ; CMD1 ; CMPD 1 ; CMPD1 ; SOX 9 ; Sox9 ; SOX9_HUMAN ; SRA 1 ; SRA1 ; SRXX2 ; SRXY10 ; SRY ; sex determining region Y ; box 9 ; campomelic dysplasia autosomal ; SRY ; sex determining region Y ; box 9 ; SRY ; sex determining region Y ; -box 9 ; SRY ; sex-determining region Y ; -box 9 protein ; SRY related HMG box gene 9 ; Transcription factor SOX 9 ; Transcription factor SOX-9 ; transcription factor SOX9
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 of other genes involved in chondrogenesis by acting as a transcription factor for these genes.,similarity:Contains 1 HMG box DNA-binding domain.,
