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Hereditary hemochromatosis protein

Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.

Below are the list of possible Hereditary hemochromatosis protein products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the researcher's specifications.

Hereditary hemochromatosis protein

 Hereditary hemochromatosis protein ELISA Kit
 Hereditary hemochromatosis protein Recombinant
 Hereditary hemochromatosis protein Antibody
Also known as Hereditary hemochromatosis protein (HLA-H).
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: apical part of cell; cytoplasmic vesicle; early endosome; external side of plasma membrane; extracellular space; integral to plasma membrane; MHC class I protein complex; perinuclear region of cytoplasm; plasma membrane; recycling endosome

Molecular Function: antigen binding; beta-2-microglobulin binding; peptide antigen binding; protein binding; receptor binding

Biological Process: antigen processing and presentation; antigen processing and presentation of peptide antigen via MHC class I; BMP signaling pathway; iron ion homeostasis; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; negative regulation of T cell cytokine production; positive regulation of protein binding; positive regulation of receptor-mediated endocytosis; protein complex assembly; response to iron ion

Disease: Alzheimer Disease; Hemochromatosis, Type 1; Microvascular Complications Of Diabetes, Susceptibility To, 7; Porphyria Cutanea Tarda; Porphyria Variegata; Transferrin Serum Level Quantitative Trait Locus 2
 HFE Recombinant
 HFE Antibody
 HLAH Recombinant
 HLAH Antibody
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Hereditary hemochromatosis protein homolog

 Hereditary hemochromatosis protein homolog ELISA Kit
 Hereditary hemochromatosis protein homolog Recombinant
 Hereditary hemochromatosis protein homolog Antibody
Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.
 HFE Recombinant
 HFE Antibody
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