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Merck
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主要文件

SAB1411195

Sigma-Aldrich

Anti-RLBP1 antibody produced in rabbit

purified immunoglobulin, buffered aqueous solution

别名:

CRALBP, MGC3663

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About This Item

分類程式碼代碼:
12352203
NACRES:
NA.41

生物源

rabbit

品質等級

共軛

unconjugated

抗體表格

purified immunoglobulin

抗體產品種類

primary antibodies

無性繁殖

polyclonal

形狀

buffered aqueous solution

分子量

antigen 36.5 kDa

物種活性

human

技術

western blot: 1 μg/mL

NCBI登錄號

UniProt登錄號

運輸包裝

dry ice

儲存溫度

−20°C

目標翻譯後修改

unmodified

基因資訊

human ... RLBP1(6017)

相关类别

一般說明

Retinaldehyde binding protein 1 (RLBP1) mapped to human chromosome 15q26, encodes cellular retinaldehyde-binding protein (CRALBP).1 RLBP1 is a 36kDa water soluble protein and is expressed exclusively in retina and pineal gland.
The protein encoded by this gene is a 36kDa water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. (provided by RefSeq)

免疫原

RLBP1 (NP_000317.1, 1 a.a. ~ 317 a.a) full-length human protein.

Sequence
MSEGVGTFRMVPEEEQELRAQLEQLTTKDHGPVFGPCSQLPRHTLQKAKDELNEREETREEAVRELQEMVQAQAASGEELAVAVAERVQEKDSGFFLRFIRARKFNVGRAYELLRGYVNFRLQYPELFDSLSPEAVRCTIEAGYPGVLSSRDKYGRVVMLFNIENWQSQEITFDEILQAYCFILEKLLENEETQINGFCIIENFKGFTMQQAASLRTSDLRKMVDMLQDSFPARFKAIHFIHQPWYFTTTYNVVKPFLKSKLLERVFVHGDDLSGFYQEIDENILPSDFGGTLPKYDGKAVAEQLFGPQAQAENTAF

生化/生理作用

Retinaldehyde binding protein 1 (RLBP1) plays a vital role in mammalian vision by directing 11-cis-retinoids for the conversion of photobleached opsin molecules into photosensitive visual pigments. Genetic variations in the gene leads to various autosomal recessive progressive retinopathy, including Bothnia dystrophy (BD) and retinitis, punctata albescens (RPA), Newfoundland rod-cone dystrophy (NFRCD), retinitis pigmentosa (RP) and fundus albipunctatus (FA).

外觀

Solution in phosphate buffered saline, pH 7.4

免責聲明

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

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儲存類別代碼

10 - Combustible liquids

水污染物質分類(WGK)

WGK 3

閃點(°F)

Not applicable

閃點(°C)

Not applicable


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Molecular clues to Bothnia-type retinal dystrophy.
Xiaoqin He et al.
Advances in experimental medicine and biology, 723, 589-594 (2011-12-21)
Stephanie Hipp et al.
Acta ophthalmologica, 93(4), e281-e286 (2014-11-29)
Mutations in the RLBP1 gene encoding the cellular retinaldehyde-binding protein (CRALBP) cause autosomal recessive progressive retinopathy, such as retinitis punctata albescens (RPA), Bothnia-type dystrophy (BD), Newfoundland rod-cone dystrophy (NFRCD), retinitis pigmentosa (RP) and fundus albipunctatus (FA). We present the clinical
Xiaoqin He et al.
Proceedings of the National Academy of Sciences of the United States of America, 106(44), 18545-18550 (2009-10-23)
Cellular retinaldehyde-binding protein (CRALBP) is essential for mammalian vision by routing 11-cis-retinoids for the conversion of photobleached opsin molecules into photosensitive visual pigments. The arginine-to-tryptophan missense mutation in position 234 (R234W) in the human gene RLBP1 encoding CRALBP compromises visual
Elodie Dessalces et al.
JAMA ophthalmology, 131(10), 1314-1323 (2013-08-10)
Retinitis punctata albescens (RPA) is an autosomal recessive form of retinitis pigmentosa characterized by white dotlike deposits in the fundus, in most cases caused by mutations in RLBP1. To study disease progression and visual function in RPA. We performed clinical

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