Product Name	SIX5
Chinese Name	Diabetes相关同源结构域蛋白SIX5抗体
Alias	BOR2; DM locus associated homeodomain protein; DM locus-associated homeodomain protein; DMAHP; Dystrophia myotonica associated homeodomain protein; Homeobox protein SIX5; Sine oculis homeobox homolog 5; sine oculis related homeobox 5 homolog (Drosophila); SIX homeobox 5; SIX5; SIX5_HUMAN.
Research Area	Cell biology  Developmental biology  Diabetes  Epigenetics
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	(predicted: Human, Mouse, Rat, Dog, Cow, Horse, Sheep, )
Applications	IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （Paraffin sections need antigen repair） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Theoretical molecular weight	75kDa
Cellular localization	The nucleus cytoplasmic
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human SIX5: 221-320/739
Lsotype	IgG
Purification	affinity purified by Protein A
Buffer Solution	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage	Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Attention	This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed	PubMed
Product Detail	The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009] Function: Transcription factor that is thought to be involved in regulation of organogenesis. May be involved in determination and maintenance of retina formation. Binds a 5'-GGTGTCAG-3' motif present in the ARE regulatory element of ATP1A1. Binds a 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the myogenin promoter, and in the IGFBP5 promoter (By similarity). Thought to be regulated by association with Dach and Eya proteins, and seems to be coactivated by EYA1, EYA2 and EYA3. Subcellular Location: Cytoplasm. Nucleus. Tissue Specificity: Expressed in adult but not in fetal eyes. Found in corneal epithelium and endothelium, lens epithelium, ciliary body epithelia, cellular layers of the retina and the sclera. DISEASE: Defects in SIX5 are the cause of branchiootorenal syndrome type 2 (BOR2) [MIM:610896]. BOR is an autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to mondini type cochlear defect and stapes fixation. Penetrance of BOR syndrome is high, although expressivity can be extremely variable. Similarity: Belongs to the SIX/Sine oculis homeobox family. Contains 1 homeobox DNA-binding domain. SWISS: Q8N196 Gene ID: 147912 Database links: Entrez Gene: 147912 Human Entrez Gene: 20475 Mouse Omim: 600963 Human SwissProt: Q8N196 Human SwissProt: P70178 Mouse Unigene: 43314 Human Unigene: 635370 Human Unigene: 3410 Mouse

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