Mouse hemochromatosis ELISA Kit | HFE elisa kit
Mouse Hereditary hemochromatosis protein, HFE ELISA Kit
NCBI and Uniprot Product Information
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
Cellular Component: recycling endosome; membrane; perinuclear region of cytoplasm; apical part of cell; early endosome; integral to membrane; plasma membrane; cytoplasmic vesicle; MHC class I protein complex
Molecular Function: peptide antigen binding; antigen binding; receptor binding
Biological Process: antigen processing and presentation; iron ion homeostasis; antigen processing and presentation of peptide antigen via MHC class I; immune system process; positive regulation of T cell mediated cytotoxicity; immune response; hormone biosynthetic process
Disease: Alzheimer Disease
Research Articles on HFE
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Product Notes
The Mouse HFE hfe (Catalog #AAA9339437) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9339437 ELISA Kit recognizes Mouse HFE. It is sometimes possible for the material contained within the vial of "hemochromatosis, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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