功能： alternative products:Additional isoforms seem to exist,disease:Defects in HFE are a cause of hereditary hemochromatosis (HH) [MIM:235200]. HH is an autosomal recessive inborn disorder of iron metabolism. It is the most common recessive disease in Caucasians. HH is characterized by abnormal intestinal iron absorption and progressive increase of total body iron, which results in midlife in clinical complications including cirrhosis, cardiopathy, diabetes, endocrine dysfunctions, arthropathy, and susceptibility to liver cancer. Since the disease complications can be effectively prevented by regular phlebotomies, early diagnosis is most important to provide a normal life expectancy to the affected subjects.,disease:Defects in HFE are a cause of porphyria variegata (PV) [MIM:176200]. 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. PV 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.,disease:Defects in HFE are associated with susceptibility to diabetic nephropathy [MIM:612635]; also called susceptibility to microvascular complications of diabetes type 7 (MVCD7) or susceptibility to diabetic proliferative retinopathy. Diabetic nephropathy is a kidney disease and resultant kidney function impairment due to the long standing effects of diabetes on the microvasculature (glomerulus) of the kidney. Features include increased urine protein and declining kidney function.,function:Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.,similarity:Belongs to the MHC class I family.,similarity:Contains 1 Ig-like C1-type (immunoglobulin-like) domain.,subunit:Binds TFR through the extracellular domain in a pH-dependent manner.,tissue specificity:In all tissues tested except brain.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Single-pass type I membrane protein .
组织表达： Expressed in all tissues tested except brain.
功能： alternative products:Additional isoforms seem to exist,disease:Defects in HFE are a cause of hereditary hemochromatosis (HH) [MIM:235200]. HH is an autosomal recessive inborn disorder of iron metabolism. It is the most common recessive disease in Caucasians. HH is characterized by abnormal intestinal iron absorption and progressive increase of total body iron, which results in midlife in clinical complications including cirrhosis, cardiopathy, diabetes, endocrine dysfunctions, arthropathy, and susceptibility to liver cancer. Since the disease complications can be effectively prevented by regular phlebotomies, early diagnosis is most important to provide a normal life expectancy to the affected subjects.,disease:Defects in HFE are a cause of porphyria variegata (PV) [MIM:176200]. 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. PV 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.,disease:Defects in HFE are associated with susceptibility to diabetic nephropathy [MIM:612635]; also called susceptibility to microvascular complications of diabetes type 7 (MVCD7) or susceptibility to diabetic proliferative retinopathy. Diabetic nephropathy is a kidney disease and resultant kidney function impairment due to the long standing effects of diabetes on the microvasculature (glomerulus) of the kidney. Features include increased urine protein and declining kidney function.,function:Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.,similarity:Belongs to the MHC class I family.,similarity:Contains 1 Ig-like C1-type (immunoglobulin-like) domain.,subunit:Binds TFR through the extracellular domain in a pH-dependent manner.,tissue specificity:In all tissues tested except brain.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Single-pass type I membrane protein .
组织表达： Expressed in all tissues tested except brain.
在线咨询
湘公网安备