P48436.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
56,137 Da
NCBI Official Full Name
Transcription factor SOX-9
NCBI Official Synonym Full Names
SRY-box 9
NCBI Official Synonym Symbols
CMD1; SRA1; CMPD1; SRXX2; SRXY10 [Similar Products]
NCBI Protein Information
transcription factor SOX-9
UniProt Protein Name
Transcription factor SOX-9
UniProt Entry Name
SOX9_HUMAN
NCBI Summary for SOX9
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 Comments for SOX9
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: Transcription factor; DNA-binding
Chromosomal Location of Human Ortholog: 17q24.3
Cellular Component: nucleoplasm; nucleus; protein complex
Molecular Function: beta-catenin binding; bHLH transcription factor binding; chromatin binding; protein binding; protein heterodimerization activity; protein kinase activity; RNA polymerase II transcription factor activity, enhancer binding; transcription factor activity
Biological Process: astrocyte fate commitment; cAMP-mediated signaling; cartilage condensation; cartilage development; cell fate specification; cell-cell adhesion; chromatin remodeling; cytoskeleton organization and biogenesis; endocrine pancreas development; epidermal growth factor receptor signaling pathway; epithelial to mesenchymal transition; extracellular matrix organization and biogenesis; hair follicle development; limb bud formation; male germ-line sex determination; male gonad development; mammary gland development; negative regulation of apoptosis; negative regulation of bone mineralization; 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 myoblast differentiation; negative regulation of ossification; negative regulation of photoreceptor cell differentiation; negative regulation of transcription, DNA-dependent; neural crest cell development; Notch signaling pathway; notochord development; nucleosome assembly; oligodendrocyte differentiation; ossification; otic vesicle formation; positive regulation of cell proliferation; positive regulation of chondrocyte differentiation; positive regulation of epithelial cell differentiation; positive regulation of epithelial cell proliferation; positive regulation of mesenchymal cell proliferation; positive regulation of phosphoinositide 3-kinase cascade; positive regulation of protein amino acid phosphorylation; positive regulation of protein catabolic process; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; prostate gland development; protein complex assembly; protein kinase B signaling cascade; regulation of apoptosis; regulation of cell adhesion; regulation of cell proliferation; retina development in camera-type eye; Sertoli cell development; Sertoli cell differentiation; signal transduction; skeletal development; somatic stem cell maintenance; spermatogenesis; tissue homeostasis; transcription from RNA polymerase II promoter; ureteric bud branching
Disease: 46,xy Sex Reversal 10; Campomelic Dysplasia
Research Articles on SOX9
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Products associated with SOX9 blocking peptide
Pathways associated with SOX9 blocking peptide
Diseases associated with SOX9 blocking peptide
Organs/Tissues associated with SOX9 blocking peptide
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