catalog number :
MBS242398
products full name :
Rabbit Polyclonal to Human SOX9
products short name :
SOX9
products name syn :
Anti-SOX9 Antibody (aa1-150) IHC-plus; SOX9; CMD1; CMPD1; SRY-related HMG-box; gene 9; Transcription factor SOX-9; Human SOX9
other names :
transcription factor SOX-9; Transcription factor SOX-9; transcription factor SOX-9; SRY-related HMG-box, gene 9; SRY (sex-determining region Y)-box 9 protein; SRY (sex determining region Y)-box 9
products gene name :
SOX9
other gene names :
SOX9; SOX9; CMD1; SRA1; CMPD1
uniprot entry name :
SOX9_HUMAN
purity :
Immunoaffinity Purified
form :
10mM PBS/1% BSA buffer pH 7.4 with 0.1% sodium azide.
storage stability :
2 degree C to 8 degree C
tested application :
Immunohistochemistry (IHC - Paraffin)
app notes :
IHC-P (10 ug/ml). Usage: Immunohistochemistry: was validated for use in immunohistochemistry on a panel of 21 formalin-fixed, paraffin-embedded (FFPE) human tissues after heat induced antigen retrieval in pH 6.0 citrate buffer. After incubation with the primary anti.
other info1 :
Target Species: Human. Immunogen Description: Recombinant protein encoding aa 1-150 of human SOX9 protein.
other info2 :
Immunogen Type: Recombinant protein. Immunogen: SOX9 antibody was raised against recombinant protein encoding aa 1-150 of human SOX9 protein. Antigen Modification: aa1-150
products categories :
Family: Transcription factor
products description :
The SOX9 protein 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.
ncbi acc num :
NP_000337.1
ncbi gb acc num :
NM_000346.3
ncbi mol weight :
56,137 Da
ncbi pathways :
Endochondral Ossification Pathway (198812); Neural Crest Differentiation Pathway (672460); Spinal Cord Injury Pathway (739007); Wnt Signaling Pathway NetPath (198799); CAMP Signaling Pathway (1017634); CAMP Signaling Pathway (1019520)
ncbi summary :
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]
uniprot summary :
SOX9: 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. Defects in SOX9 are the cause of campomelic dysplasia (CMD1). 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). SRXX2 is a condition in which male gonads develop in a genetic female (female to male sex reversal). Protein type: DNA-binding; Transcription factor. Chromosomal Location of Human Ortholog: 17q24.3. Cellular Component: nucleoplasm; protein complex; nucleus. Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; protein binding; protein heterodimerization activity; beta-catenin binding; bHLH transcription factor binding; chromatin binding; transcription factor activity; protein kinase activity. Biological Process: prostate gland development; extracellular matrix organization and biogenesis; somatic stem cell maintenance; astrocyte fate commitment; positive regulation of transcription, DNA-dependent; negative regulation of chondrocyte differentiation; negative regulation of epithelial cell differentiation; notochord development; protein amino acid phosphorylation; regulation of apoptosis; negative regulation of bone mineralization; cell-cell adhesion; hair follicle development; positive regulation of mesenchymal cell proliferation; negative regulation of ossification; tissue homeostasis; positive regulation of epithelial cell differentiation; oligodendrocyte differentiation; protein complex assembly; cartilage condensation; negative regulation of photoreceptor cell differentiation; positive regulation of phosphoinositide 3-kinase cascade; nucleosome assembly; positive regulation of chondrocyte differentiation; retina development in camera-type eye; positive regulation of protein catabolic process; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; positive regulation of epithelial cell proliferation; negative regulation of apoptosis; transcription from RNA polymerase II promoter; neural crest cell development; Sertoli cell differentiation; cell fate specification; negative regulation of immune system process; signal transduction; cAMP-mediated signaling; mammary gland development; positive regulation of cell proliferation; protein kinase B signaling cascade; otic vesicle formation; skeletal development; negative regulation of epithelial cell proliferation; epidermal growth factor receptor signaling pathway; regulation of cell adhesion; ossification; male gonad development; cytoskeleton organization and biogenesis; Sertoli cell development; endocrine pancreas development; regulation of cell proliferation; male germ-line sex determination; chromatin remodeling; limb bud formation; ureteric bud branching; cartilage development; epithelial to mesenchymal transition; spermatogenesis; positive regulation of protein amino acid phosphorylation; negative regulation of myoblast differentiation. Disease: Campomelic Dysplasia; 46,xy Sex Reversal 10