Overview

  • Product name

    Recombinant Human HFE protein (denatured)
  • Protein length

    Protein fragment
  • Description

    Recombinant Human HFE protein

Description

  • Nature

    Recombinant
  • Source

    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      MGSSHHHHHHSSGLVPRGSHMGSMRLLRSHSLHYLFMGASEQDLGLSLFE ALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMF TVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEF CPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELG RGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDA KEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWE PSPSGTLV
    • Molecular weight

      36 kDa including tags
    • Amino acids

      23 to 306
    • Tags

      His tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab139241 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    SDS-PAGE

  • Purity

    > 85 % SDS-PAGE.

  • Form

    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped 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.

    pH: 8.00
    Constituents: 2.4% Urea, 0.32% Tris HCl, 10% Glycerol

General Info

  • Alternative names

    • dJ221C16.10.1
    • Hemochromatosis
    • Hemochromatosis protein
    • Hereditary hemochromatosis protein
    • Hereditary hemochromatosis protein HLA H
    • HFE
    • HFE 1
    • HFE_HUMAN
    • HFE1
    • HH
    • High Fe
    • HLA H
    • HLA-H
    • HLAH
    • MGC:150812
    • MGC10379
    • MGC103790
    • MHC class I like protein HFE
    • MVCD7
    • TFQTL2
    see all
  • Function

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

    Expressed in all tissues tested except brain.
  • Involvement in disease

    Defects 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 similarities

    Belongs to the MHC class I family.
    Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
  • Cellular localization

    Membrane.
  • Information by UniProt

Images

  • 15% SDS-PAGE analysis of 3 µg ab139241.

References

ab139241 has not yet been referenced specifically in any publications.

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