NP_034554.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
40,534 Da
NCBI Official Full Name
hereditary hemochromatosis protein homolog
NCBI Official Synonym Full Names
hemochromatosis
NCBI Official Synonym Symbols
NCBI Protein Information
hereditary hemochromatosis protein homolog
UniProt Protein Name
Hereditary hemochromatosis protein homolog
UniProt Synonym Gene Names
UniProt Entry Name
HFE_MOUSE
UniProt Comments for Hfe
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: apical part of cell; cytoplasmic vesicle; early endosome; external side of plasma membrane; extracellular space; perinuclear region of cytoplasm; recycling endosome
Molecular Function: antigen binding; beta-2-microglobulin binding; receptor binding
Biological Process: antigen processing and presentation; BMP signaling pathway; hormone biosynthetic process; 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; response to iron ion
Disease: Alzheimer Disease
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Products associated with Hfe recombinant protein
Pathways associated with Hfe recombinant protein
Diseases associated with Hfe recombinant protein
Organs/Tissues associated with Hfe recombinant protein
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