Product Name	SIX1
Chinese Name	同源盒蛋白SIX1抗体
Alias	BOS3; DFNA23; Homeobox protein SIX1; OTTHUMP00000179042; Sine oculis homeobox homolog 1; SIX homeobox 1; SIX1; SIX1_HUMAN; TIP39.
Research Area	Cell biology  Developmental biology  transcriptional regulatory factor  Epigenetics
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	(predicted: Human, Mouse, Rat, Cow, Rabbit, Sheep, )
Applications	WB=1:500-2000 ELISA=1:5000-10000 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	32kDa
Cellular localization	The nucleus
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human SIX1: 151-250/284
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 homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008] Function: May be involved in limb tendon and ligament development. Subcellular Location: Nucleus. Tissue Specificity: Specifically expressed in skeletal muscle. DISEASE: Defects in SIX1 are the cause of deafness autosomal dominant type 23 (DFNA23) [MIM:605192]. A form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients. Defects in SIX1 are the cause of branchiootic syndrome type 3 (BOS3) [MIM:608389]. BOS3 is a syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies are as those seen in individuals with the branchiootorenal syndrome. However, renal anomalies are absent in branchiootic syndrome patients. Note=Defects in SIX1 could be a cause of branchiootorenal syndrome (BOR). 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: Q15475 Gene ID: 6495 Database links: Entrez Gene: 6495 Human Entrez Gene: 20471 Mouse Entrez Gene: 114634 Rat Omim: 601205 Human SwissProt: Q15475 Human SwissProt: Q62231 Mouse SwissProt: Q8BSP4 Mouse Unigene: 54416 Human Unigene: 713114 Human Unigene: 4645 Mouse Unigene: 23396 Rat

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