Rabbit anti-Human HFE Polyclonal Antibody | anti-HFE antibody

HFE (Hereditary Hemochromatosis Protein, HFE1, dJ221C16.10.1, HLAH, HLA-H, HH, MGC103790, MVCD7) (MaxLight 550)

Cat. Num. AAA6480334

• Gene Names: HFE; HH; HFE1; HLA-H; MVCD7; TFQTL2
• Reactivity: Human
• Applications: Western Blot
• Purity: Purified by Ammonium Sulfate Precipitation.
• Synonyms: HFE; Polyclonal Antibody; HFE (Hereditary Hemochromatosis Protein; HFE1; dJ221C16.10.1; HLAH; HLA-H; HH; MGC103790; MVCD7) (MaxLight 550); anti-HFE antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human HFE.
• Purity/Purification: Purified by Ammonium Sulfate Precipitation.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with MaxLight550.

• Applicable Applications for anti-HFE antibody: Western Blot (WB), FLISA
• Application Notes: WB: 1:50-1:100; FLISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: Synthetic peptide selected from the center region of human HFE (KLH).
• Conjugate: MaxLight550
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: MaxLight550 conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Western Blot (WB)

(Western blot analysis of HFE antibody (Center) in Jurkat cell line lysates (35ug/lane). HFE (arrow) was detected using the purified Pab.)

Immunohistochemistry (IHC)

(HFE Antibody (Center) IHC analysis in formalin fixed and paraffin embedded human testis tissue followed by peroxidase conjugation of the secondary antibody and DAB staining. This data demonstrates the use of the HFE Antibody (Center) for immunohistochemistry. Clinical relevance has not been evaluated.)

Product Categories/Family for anti-HFE antibody

Antibodies; Membrane Proteins

References

1. Valenti, L., Clin J Am Soc Nephrol 4(8), 1331-1337 (2009). 2. Won, J.E., Intervirology 52(5), 239-246 (2009).

NCBI and Uniprot Product Information

• NCBI GI #: 4504377
• NCBI GeneID: 3077
• NCBI Accession #: NP_000401
• NCBI GenBank Nucleotide #: NM_000410.3
• UniProt Accession #: Q30201; O75929; O75930; O75931; Q17RT0; Q96KU5; Q96KU6; Q96KU7; Q96KU8; Q9HC64; Q9HC68; B2CKL0
• Molecular Weight: 35.7kDa (308aa)
• NCBI Official Full Name: hereditary hemochromatosis protein isoform 1
• NCBI Official Synonym Full Names: hemochromatosis
• NCBI Official Symbol: HFE
• NCBI Official Synonym Symbols: HH; HFE1; HLA-H; MVCD7; TFQTL2
• NCBI Protein Information: hereditary hemochromatosis protein
• UniProt Protein Name: Hereditary hemochromatosis protein
• Protein Family: Hereditary hemochromatosis protein
• UniProt Gene Name: HFE
• UniProt Synonym Gene Names: HLAH
• UniProt Entry Name: HFE_HUMAN

NCBI Description

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]

Uniprot Description

HFE: Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin. Defects in HFE are a cause of hemochromatosis (HFE). A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Defects in HFE are associated with variegate porphyria (VP). Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. VP is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Iron overload due to HFE mutations is a precipitating or exacerbating factor in variegate porphyria. Defects in HFE are associated with susceptibility to microvascular complications of diabetes type 7 (MVCD7). These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Belongs to the MHC class I family. 11 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 6p21.3

Cellular Component: recycling endosome; apical part of cell; integral to plasma membrane; perinuclear region of cytoplasm; early endosome; plasma membrane; cytoplasmic vesicle; MHC class I protein complex

Molecular Function: protein binding; peptide antigen binding; antigen binding; receptor binding

Biological Process: antigen processing and presentation; antigen processing and presentation of peptide antigen via MHC class I; positive regulation of T cell mediated cytotoxicity; cellular iron ion homeostasis; immune response; protein complex assembly; female pregnancy; hormone biosynthetic process; cellular response to iron ion starvation

Disease: Microvascular Complications Of Diabetes, Susceptibility To, 7; Transferrin Serum Level Quantitative Trait Locus 2; Porphyria Variegata; Alzheimer Disease; Hemochromatosis, Type 1; Porphyria Cutanea Tarda