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AAAS (基因名), Aladin (蛋白名), AAAS_HUMAN.
产品名称:

Human AAAS/ Aladin Recombinant Protein

货号:
-
商标:
EIAab®
监管等级:
别名:

Adracalin, GL003, ADRACALA

序列号:
Q9NRG9
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 AAAS Protein
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Human AAAS Protein
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产品说明书
说明书: 下载说明书
MSDS: MSDS
在线询价


基因位点
Cytogenetic band: 12q13.13 by HGNC 12q13.13 by Entrez Gene 12q13.13 by Ensembl
AAAS 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:
Interacts with NDC1, the interaction is required for nuclear pore localization.


功能:
Plays a role in the normal development of the peripheral and central nervous system.


亚细胞位置:
Nucleus Nuclear pore complex


该产品尚未在任何出版物中被引用。

[1].
"Mutant WD-repeat protein in triple-A syndrome."

[2].
"The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope."

[3].
"Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS."

[4].
"Proteomic analysis of the mammalian nuclear pore complex."

[5].
"Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene."

[6].
"Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene."

[7].
"Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome."

[8].
"The transmembrane nucleoporin NDC1 is required for targeting of ALADIN to nuclear pore complexes."

[9].
"Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism."

[10].
"A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome."
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