Product Name	Anti-SOX9/AF594
Chinese Name	AF594标记的转录因子SOX9蛋白抗体
Alias	CMD 1; CMD1; CMPD 1; CMPD1; SOX 9; Sox9; SOX9_HUMAN; SRA 1; SRA1 antibody 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; Transcription factor SOX 9; Transcription factor SOX-9; transcription factor SOX9; campomelic dysplasia autosomal sex reversal.
Research Area	Tumour  Cell biology  immunology  Developmental biology  Chromatin and nuclear signals  Neurobiology  transcriptional regulatory factor  Epigenetics
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	Human,  (predicted: Mouse, Rat, Pig, Horse, Rabbit, )
Applications	ICC=1:50-200 IF=1:50-200  not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Molecular weight	56kDa
Form	Lyophilized or Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human SOX9
Lsotype	IgG
Purification	affinity purified by Protein A
Storage Buffer	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage	Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
Product Detail	background: 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]. 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. Subcellular Location: Nucleus (Potential). 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. Defects in SOX9 are the cause of 46,XX sex reversal type 2 (SRXX2) [MIM:278850]. SRXX2 is a condition in which male gonads develop in a genetic female (female to male sex reversal). Similarity: Contains 1 HMG box DNA-binding domain. Database links: Entrez Gene: 6662 Human Entrez Gene: 20682 Mouse Entrez Gene: 140586 Rat Omim: 608160 Human SwissProt: P48436 Human SwissProt: Q04887 Mouse SwissProt: O18896 Pig Unigene: 647409 Human Unigene: 286407 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

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