HFE2 抗体
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北京 101111
Quick Overview for HFE2 抗体 (ABIN5964404)
抗原
See all HFE2 抗体适用
宿主
克隆类型
标记
应用范围
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纯化方法
- Affinity purification
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免疫原
- Recombinant protein of human HFE2
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亚型
- IgG
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应用备注
- WB 1:500 - 1:2000
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限制
- 仅限研究用
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浓度
- 1 mg/mL
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缓冲液
- Buffer: PBS with 0.02 % sodium azide, 50 % glycerol, pH 7.3.
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储存液
- Sodium azide
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注意事项
- This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
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储存条件
- -20 °C
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储存方法
- Store at -20°C. Avoid freeze / thaw cycles.
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- HFE2 (Hemochromatosis Type 2 (Juvenile) (HFE2))
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别名
- HFE2
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背景
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Synonyms: 2310035L15Rik,5230400G09Rik ,AI414844,AI789733,DL M,Haemojuvelin,HEMOCHROMATOSIS,HEMOCHROMATOSIS DUE TO DEFECT IN HEMOJUVELIN,HEMOCHROMATOSIS DUE TO DEFECT IN HEPCIDIN ANTIMICROBIAL PEPTIDE,HEMOCHROMATOSIS JUVENILE,Hemochromatosis type 2 (juvenile),Hemochromatosis type 2,Hemochromatosis type 2 protein,Hemochromatosis type 2 protein homolog,HEMOCHROMATOSIS, TYPE 2A,HEMOCHROMATOSIS, TYPE 2B,Hemojuvelin,HFE 2,Hfe2,HFE2A,HJV,JH,Juvenile,MGC23953,OTTHUMP00000059680,Repulsive guidance molecule c,RGM C,RGM domain family member C,RGMC
Background: The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30.
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分子量
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Observed_MW: 48kDa
Calculated_MW: 21kDa/33kDa/45kDa
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基因ID
- 148738
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UniProt
- Q6ZVN8
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途径
- Transition Metal Ion Homeostasis
抗原
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