hemochromatosis, ELISA Kit

Human Hereditary hemochromatosis protein (HFE) ELISA kit; HFE1; HH; HLA-H; MGC103790; MVCD7; dJ221C16.10.1; MHC class I-like protein HFE; hemochromatosis protein; hereditary hemochromatosis protein HLA-H; high Fe; hemochromatosis

For Research Use Only. Not for use in diagnostic procedures.

This assay has high sensitivity and excellent specificity for detection of Human HFE. No significant cross-reactivity or interference between Human HFE and analogues was observed.

Unopened test kits should be stored at 2 to 8 degree C upon receipt. Please refer to pdf manual for further storage instructions.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Select online data sheet information is drawn from bioinformatics databases, occasionally resulting in ambiguous or non-relevant product information. It is the responsibility of the customer to review, verify, and evaluate the information to make sure it matches their requirements before purchasing the kit. Our ELISA Kit assays are dynamic research tools and sometimes they may be updated and improved. If the format of this assay is important to you then please request the current manual or contact our technical support team with a presales inquiry before placing an order. We will confirm the current details of the assay. We cannot guarantee the sample manual posted online is the most current manual.

Small volumes of HFE elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS911367 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the hemochromatosis (HFE) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing HFE. The ELISA analytical biochemical technique of the MBS911367 kit is based on HFE antibody-HFE antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect HFE antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, HFE. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

40,108 Da

hemochromatosis

hereditary hemochromatosis protein; high Fe; MHC class I-like protein HFE; hereditary hemochromatosis protein HLA-H

Hereditary hemochromatosis protein

HLAH  [Similar Products]

HFE_HUMAN

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]

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 *****s. 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; perinuclear region of cytoplasm; integral to plasma membrane; 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; cellular iron ion homeostasis; positive regulation of T cell mediated cytotoxicity; protein complex assembly; immune response; hormone biosynthetic process; female pregnancy; cellular response to iron ion starvation

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

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