EIAab
首页  >  重组蛋白  >  Human ABCA4 Recombinant Protein
ABCA4 (基因名), Retinal-specific phospholipid-transporting ATPase ABCA4 (蛋白名), ABCA4_HUMAN.
产品名称:

Human ABCA4/ Retinal-specific phospholipid-transporting ATPase ABCA4 Recombinant Protein
视网膜特异性磷脂转运atp酶ABCA4

货号:

R10399h

商标:
EIAab®
监管等级:
别名:

ATP-binding cassette sub-family A member 4, RIM ABC transporter, Retinal-specific ATP-binding cassette transporter, Stargardt disease protein, RIM protein, ABCR

序列号:
P78363
来源:
E.coli
种属:
Human
标签:
His
纯度:
>90% by SDS-PAGE
浓度:
Reconstitution Dependent
形态:
Liquid
内毒素水平:
Please contact protein@eiaab.com The technician for more information.
应用:
存储缓冲液:
50mM NaH2PO4, 500mM NaCl Buffer with 500mM Imidazole, 10%glycerol(PH8.0)
存储:
Store at -20°C. (Avoid repeated freezing and thawing.)
研究领域:
-
Human ABCA4 Protein
规格 & 价格: cart
×
Human ABCA4 Protein
邮箱 *
消息 *
Please 登录.
产品说明书
说明书: 下载说明书
MSDS: MSDS
在线询价


R&D 技术数据
更多信息,请参阅手册,或联系我们的技术支持: tech@eiaab.com.
基因位点
Cytogenetic band: 1p22.1 by HGNC 1p22.1 by Entrez Gene 1p22.1 by Ensembl
ABCA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
基因位点
通用注释


亚单元:
N/A


功能:
Catalyzes the translocation of specific phospholipids from the extracellular/lumenal to the cytoplasmic leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Transports preferentially phosphatidylethanolamine (PubMed:24097981). In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans-retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery.


亚细胞位置:
Membrane Multi-pass membrane protein Endoplasmic reticulum Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor.


该产品尚未在任何出版物中被引用。

[1].
"Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants."

[2].
"Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)."

[3].
"Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration."

[4].
"An analysis of allelic variation in the ABCA4 gene."

[5].
"Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease."

[6].
"Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis."

[7].
"ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies."

[8].
"N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population."

[9].
"Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients."

[10].
"Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa."
关闭
Sample Data
关闭
Sample Data
关闭
Sample Data
用户中心 close
购物车 close
我的收藏 close
我的足迹 close
清除
产品对比 close
用户中心
购物车
我的收藏
我的足迹
产品对比
回到顶部
通知
new 咨询
规格 数量 单价 (¥) 小计 1 (¥)
小计 2:
triangle
规格 数量 单价 (¥)
你想做我们的代理并得到更低的折扣吗?
请联系我们:
电话:027-59234612(+86)
传真:027-59234610(+86)
邮箱:sales@eiaab.com