Product nameAnti-HFE antibody
See all HFE primary antibodies
DescriptionRabbit polyclonal to HFE
Tested applicationsSuitable for: WBmore details
Species reactivityReacts with: Human
Predicted to work with: Chimpanzee
Synthetic peptide corresponding to Human HFE aa 50-150 conjugated to keyhole limpet haemocyanin.
(Peptide available as
- This antibody gave a positive signal in the following whole cell lysates: Hela nuclear; U20S; A498
Storage instructionsShipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.
Storage bufferPreservative: 0.02% Sodium Azide
Constituents: 1% BSA, PBS, pH 7.4
Concentration information loading...
PurityImmunogen affinity purified
Our Abpromise guarantee covers the use of ab75401 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|WB||Use a concentration of 1 µg/ml. Detects a band of approximately 40 kDa (predicted molecular weight: 40 kDa).|
FunctionBinds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.
Tissue specificityExpressed in all tissues tested except brain.
Involvement in diseaseDefects in HFE are a cause of hemochromatosis (HFE) [MIM:235200]. 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) [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. 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. Note=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) [MIM:612635]. 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.
Sequence similaritiesBelongs to the MHC class I family.
Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
- Information by UniProt
- dJ221C16.10.1 antibody
- Hemochromatosis antibody
- Hemochromatosis protein antibody
All lanes : Anti-HFE antibody (ab75401) at 1 µg/ml
Lane 1 : HeLa (Human epithelial carcinoma cell line) Nuclear Lysate
Lane 2 : U2OS (Human osteosarcoma cell line) Whole Cell Lysate
Lane 3 : A498 (Human Kidney Carcinoma) Whole Cell Lysate
Lysates/proteins at 10 µg per lane.
All lanes : Goat polyclonal to Rabbit IgG - H&L - Pre-Adsorbed (HRP) at 1/3000 dilution
Developed using the ECL technique.
Performed under reducing conditions.
Predicted band size: 40 kDa
Observed band size: 40 kDa
Additional bands at: 24 kDa, 37 kDa (possible isoform). We are unsure as to the identity of these extra bands.
Exposure time: 5 minutes
HFE has 7 isoforms of varying molecular weight (SwissProt), the band observed at 37 kDa is representative of Isoform 5.
ab75401 has not yet been referenced specifically in any publications.