重组人Bestrophin/BEST1蛋白(ab152797)
Key features and details
- Expression system: Wheat germ
- Suitable for: ELISA, SDS-PAGE, WB
描述
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产品名称
重组人Bestrophin/BEST1蛋白
参阅全部 Bestrophin/BEST1 蛋白酶 -
表达系统
Wheat germ -
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
MFEKLTLYCDSYIQLIPISFVLGFYVTLVVTRWWNQYENLPWPDRLMSLV SGFVEGKDEQGRLLRRTLIRYANLGNVLILRSVSTAVYKRFPSAQHLVQA GFMTPAEHKQLEKLSLPHNMFWVPWVWFANLSMKAWLGGRIRDPILLQSL LNEMNTLRTQCGHLYAYDWISIPLVYTQVVTVAVYSFFLTCLVGRQFLNP AKAYPGHELDLVVPVFTFLQFFFYVGWLKVAEQLINPFGEDDDDFETNWI VDRNLQVSLLAVDEMHQDLPRMEPDMYWNKPEPQPPYTAASAQFRRVSFM GSTFNISLNKEEMEFQPNQEDEEDAHAGIIGRFLGLQSHDHHPPRANSRT KLLWPKRESLLHEGLPKNHKAAKQNVRGQEDNKAWKLKAVDAFKSAPLYQ RPGYYSAPQTPLSPTPMFFPLEPSAPSKLHSVTGIDTKDKSLKTVSSGAK KSFELLSESDGALMEHPEVSQVRRKTVEFNLTDMPEIPENHLKEPLEQSP TNIHTTLKDHMDPYWALENRSVLHLNQGHCIALCPTPASLALSLPFLHNF LGFHHCQSTLDLRPALAWGIYLATFTGILGKCSGPFLTSPWYHPEDFLGP GEGR -
预测分子量
96 kDa including tags -
氨基酸
1 to 604
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相关产品
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Related Products
技术指标
Our Abpromise guarantee covers the use of ab152797 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
ELISA
SDS-PAGE
Western blot
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形式
Liquid -
补充说明
This product was previously labelled as Bestrophin.
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Concentration information loading...
制备和贮存
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稳定性和存储
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00
Constituents: 0.31% Glutathione, 0.79% Tris HCl
常规信息
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别名
- ARB
- BEST
- BEST 1
see all -
功能
Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate. -
组织特异性
Predominantly expressed in the basolateral membrane of the retinal pigment epithelium. -
疾病相关
Defects in BEST1 are the cause of vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]; also known as Best macular dystrophy (BMD). VMD2 is an autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss.
Defects in BEST1 are the cause of retinitis pigmentosa type 50 (RP50) [MIM:613194]. A retinal dystrophy belonging to the group of pigmentary retinopathies. RP is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Defects in BEST1 are a cause of adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]. AVMD is a rare autosomal dominant disorder with incomplete penetrance and highly variable expression. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity.
Defects in BEST1 are the cause of bestrophinopathy autosomal recessive (ARB) [MIM:611809]. A retinopathy characterized by central visual loss, an absent electro-oculogram light rise, and a reduced electroretinogram.
Defects in BEST1 are the cause of vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220]. A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable and may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma. -
序列相似性
Belongs to the bestrophin family. -
翻译后修饰
Phosphorylated by PP2A. -
细胞定位
Cell membrane. Basolateral cell membrane. - Information by UniProt
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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Datasheet download
文献 (0)
ab152797 尚未被引用在任何文献中。