重组人SIX1蛋白(denatured) (ab134521)
Key features and details
- Expression system: Escherichia coli
- Purity: > 85% SDS-PAGE
- Tags: His tag N-Terminus
- Suitable for: SDS-PAGE
描述
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产品名称
重组人SIX1蛋白(denatured) -
纯度
> 85 % SDS-PAGE. -
表达系统
Escherichia coli -
Accession
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蛋白长度
Full length protein -
无动物成分
No -
性质
Recombinant -
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种属
Human -
序列
MGSSHHHHHH SSGLVPRGSH MGSHMSMLPS FGFTQEQVAC VCEVLQQGGN LERLGRFLWS LPACDHLHKN ESVLKAKAVV AFHRGNFREL YKILESHQFS PHNHPKLQQL WLKAHYVEAE KLRGRPLGAV GKYRVRRKFP LPRTIWDGEE TSYCFKEKSR GVLREWYAHN PYPSPREKRE LAEATGLTTT QVSNWFKNRR QRDRAAEAKE RENTENNNSS SNKQNQLSPL EGGKPLMSSS EEEFSPPQSP DQNSVLLLQG NMGHARSSNY SLPGLTASQP SHGLQTHQHQ LQDSLLGPLT SSLVDLGS -
预测分子量
35 kDa including tags -
氨基酸
1 to 284 -
标签
His tag N-Terminus
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描述
重组人SIX1蛋白
相关产品
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Related Products
技术指标
Our Abpromise guarantee covers the use of ab134521 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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应用
SDS-PAGE
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形式
Liquid -
Concentration information loading...
制备和贮存
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稳定性和存储
Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.
pH: 8.00
Constituents: 12.01% Urea, 0.32% Tris HCl, 10% Glycerol (glycerin, glycerine)
常规信息
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别名
- BOS3
- DFNA23
- Homeobox protein SIX1
see all -
功能
May be involved in limb tendon and ligament development. -
组织特异性
Specifically expressed in skeletal muscle. -
疾病相关
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. -
序列相似性
Belongs to the SIX/Sine oculis homeobox family.
Contains 1 homeobox DNA-binding domain. -
细胞定位
Nucleus. - Information by UniProt
图片
实验方案
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
数据表及文件
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SDS download
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Datasheet download
文献 (0)
ab134521 尚未被引用在任何文献中。