Human, Mouse SOX-9 ELISA Kit | SOX-9 elisa kit
SOX-9 (Phospho-Ser181) TFact DNA-Binding ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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 Description
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: nuclear transcription factor complex; nucleoplasm; nucleus; protein complex
Molecular Function: beta-catenin binding; bHLH transcription factor binding; chromatin binding; DNA binding transcription factor activity; protein binding; protein heterodimerization activity; protein kinase activity; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
Biological Process: astrocyte fate commitment; branching involved in ureteric bud morphogenesis; cAMP-mediated signaling; cartilage condensation; cartilage development; cell fate specification; cellular response to BMP stimulus; cellular response to epidermal growth factor stimulus; cellular response to heparin; cellular response to interleukin-1; cellular response to retinoic acid; cellular response to transforming growth factor beta stimulus; chondrocyte differentiation; chondrocyte differentiation involved in endochondral bone morphogenesis; chondrocyte hypertrophy; chromatin remodeling; cochlea morphogenesis; cytoskeleton organization; endocardial cushion morphogenesis; endocrine pancreas development; epidermal growth factor receptor signaling pathway; epithelial to mesenchymal transition; ERK1 and ERK2 cascade; extracellular matrix organization; hair follicle development; Harderian gland development; heart valve development; heart valve formation; heart valve morphogenesis; lacrimal gland development; limb bud formation; male germ-line sex determination; male gonad development; mammary gland development; metanephric nephron tubule formation; negative regulation of apoptosis; negative regulation of bone mineralization; negative regulation of canonical Wnt signaling pathway; negative regulation of chondrocyte differentiation; negative regulation of epithelial cell differentiation; negative regulation of epithelial cell proliferation; negative regulation of immune system process; negative regulation of mesenchymal cell apoptotic process; negative regulation of myoblast differentiation; negative regulation of ossification; negative regulation of photoreceptor cell differentiation; negative regulation of transcription, DNA-dependent; neural crest cell development; neural crest cell fate specification; Notch signaling pathway; notochord development; nucleosome assembly; oligodendrocyte differentiation; ossification; otic vesicle formation; positive regulation of branching involved in ureteric bud morphogenesis; positive regulation of cell proliferation; positive regulation of cell proliferation involved in heart morphogenesis; positive regulation of chondrocyte differentiation; positive regulation of epithelial cell differentiation; positive regulation of epithelial cell migration; positive regulation of epithelial cell proliferation; positive regulation of extracellular matrix assembly; positive regulation of kidney development; positive regulation of male gonad development; positive regulation of mesenchymal cell proliferation; positive regulation of mesenchymal stem cell differentiation; positive regulation of phosphoinositide 3-kinase cascade; positive regulation of protein catabolic process; positive regulation of protein phosphorylation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-templated; prostate gland development; protein complex assembly; protein kinase B signaling; protein localization to nucleus; regulation of apoptosis; regulation of cell adhesion; regulation of cell cycle process; regulation of cell proliferation; regulation of epithelial cell proliferation involved in lung morphogenesis; renal vesicle induction; retina development in camera-type eye; Sertoli cell development; Sertoli cell differentiation; signal transduction; skeletal system development; somatic stem cell maintenance; spermatogenesis; tissue homeostasis; transcription initiation from RNA polymerase II promoter; ureter morphogenesis; ureter smooth muscle cell differentiation; ureter urothelium development
Disease: 46,xy Sex Reversal 10; Campomelic Dysplasia
Research Articles on SOX-9
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Product Notes
The Human, Mouse SOX-9 sox9 (Catalog #AAA9502290) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9502290 ELISA Kit recognizes Human, Mouse SOX-9. It is sometimes possible for the material contained within the vial of "SOX-9, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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