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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
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Human ABCA4 Protein
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产品说明书
说明书: 下载说明书
MSDS: MSDS


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."
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