• 靶点：
• HFE

• 基因名称：
• HFE

• 蛋白名称：
• Hereditary hemochromatosis protein

• Human Gene Id：
• 3077

• Human Swiss Prot No：
• Q30201

• Mouse Swiss Prot No：
• P70387

• 免疫原：
• Purified recombinant fragment of human HFE expressed in E. Coli.

• 特异性：
• HFE Monoclonal Antibody detects endogenous levels of HFE protein.

• 组成：
• Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

• 来源：
• Monoclonal, Mouse

• 稀释：
• WB 1:500 - 1:2000. IF 1:200 - 1:1000. ELISA: 1:10000. Not yet tested in other applications.

• 纯化工艺：
• Affinity purification

• 储存：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• 其他名称：
• HFE;HLAH;Hereditary hemochromatosis protein;HLA-H

• 分子量：
• 40kD

• 背景：
• The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008],

• 功能：
• alternative products:Additional isoforms seem to exist,disease:Defects in HFE are a cause of hereditary hemochromatosis (HH) [MIM:235200]. HH is an autosomal recessive inborn disorder of iron metabolism. It is the most common recessive disease in Caucasians. HH is characterized by abnormal intestinal iron absorption and progressive increase of total body iron, which results in midlife in clinical complications including cirrhosis, cardiopathy, diabetes, endocrine dysfunctions, arthropathy, and susceptibility to liver cancer. Since the disease complications can be effectively prevented by regular phlebotomies, early diagnosis is most important to provide a normal life expectancy to the affected subjects.,disease:Defects in HFE are a cause of porphyria variegata (PV) [MIM:176200]. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excr

• 细胞定位：
• Cell membrane ; Single-pass type I membrane protein .

• 组织表达：
• Expressed in all tissues tested except brain.

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