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SIX1 Rabbit pAb (bs-17504R)  
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50ul/1180.00元
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產(chǎn)品編號 bs-17504R
英文名稱 SIX1 Rabbit pAb
中文名稱 同源盒蛋白SIX1抗體
別    名 BOS3; DFNA23; Homeobox protein SIX1; OTTHUMP00000179042; Sine oculis homeobox homolog 1; SIX homeobox 1; SIX1; SIX1_HUMAN; TIP39.  
研究領域 細胞生物  發(fā)育生物學  轉錄調節(jié)因子  表觀遺傳學  
抗體來源 Rabbit
克隆類型 Polyclonal
克 隆 號
交叉反應 (predicted: Human,Mouse,Rat,Rabbit,Sheep,Cow)
產(chǎn)品應用 WB=1:500-2000,IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500,ICC/IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 32 kDa
檢測分子量
細胞定位 細胞核 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human SIX1: 151-250/284 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產(chǎn)品介紹 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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