• Hephaestin, also known as HEPH, is a protein which in humans is encoded by the HEPH gene. (wikipedia.org)
  • Hephaestin presents homology with ceruloplasmin, a serum dehydrogenase protein involved in copper detoxification and storage. (wikipedia.org)
  • Hephaestin is a protein of 1135 aminoacids formed from a precursor of 1158 aminoacids and is 130.4 kDa. (wikipedia.org)
  • sla mice harbor a partial deletion mutation of the HEPH gene, resulting in the expression of a hephaestin protein that is truncated by 194 amino acids. (wikipedia.org)
  • Studies suggest that this truncated hephaestin protein still retains a minimal, yet detectable and quantifiable level of ferroxidase activity. (wikipedia.org)
  • In addition to the truncation of the original protein, the iron-deficient sla phenotype may also be explained by the intracellular mislocalization of hephaestin. (wikipedia.org)
  • While hephaestin shares 50% amino acid sequence identity with its serum homologue ceruloplasmin, the hephaestin protein includes an additional 86 amino acids at the C-terminus, which code for a single transmembrane domain and a short cytoplasmic tail. (wikipedia.org)
  • Some studies suggest mechanisms for local and systemic control of intestinal iron transport, in which high dietary iron intake and sufficient iron stores lead to down-regulation of DMT1, ferroportin (Ireg1) and hephaestin protein, thus minimizing iron absorption from the enterocytes into the circulation. (wikipedia.org)
  • Hephaestin is involved in the metabolism and homeostasis of iron and possibly copper. (wikipedia.org)
  • Hephaestin converts iron(II) state, Fe2+, to iron(III) state, Fe3+, and mediates iron efflux most likely in cooperation with the basolateral iron transporter, ferroportin 1. (wikipedia.org)
  • Much of what is known about hephaestin comes from studying heritable mutants of murine iron metabolism. (wikipedia.org)
  • The regulation of hephaestin expression and the protein's role in the larger picture of iron metabolism and homeostasis remain an active area of research. (wikipedia.org)
  • Conversely, it is suggested that states of low dietary intake and low iron stores induce up-regulation of DMT1 as well as Ireg1 and hephaestin, thus simultaneously increasing the enterocyte's capacity for dietary iron uptake on the basolateral surface and export into the circulation on the apical surface. (wikipedia.org)
  • A mouse line deficient in the iron transporting ferroxidases ceruloplasmin and hephaestin develops age-dependent retinal iron overload and retinal degeneration with features of AMD (Hahn et al. (upenn.edu)
  • Mediates iron efflux in the presence of a ferroxidase (hephaestin and/or ceruloplasmin). (nih.gov)
  • In prior studies, both iron overload and features of AMD were identified in mice deficient in the ferroxidase ceruloplasmin (Cp) and its homologue hephaestin (Heph) (double knockout, DKO). (nih.gov)
  • Studies suggest that this truncated hephaestin protein still retains a minimal, yet detectable and quantifiable level of ferroxidase activity. (wikipedia.org)
  • Mediates iron efflux in the presence of a ferroxidase (hephaestin and/or ceruloplasmin). (nih.gov)
  • While hephaestin shares 50% amino acid sequence identity with its serum homologue ceruloplasmin, the hephaestin protein includes an additional 86 amino acids at the C-terminus, which code for a single transmembrane domain and a short cytoplasmic tail. (wikipedia.org)
  • Hephaestin is involved in the metabolism and homeostasis of iron and possibly copper. (wikipedia.org)
  • They demonstrated that recombinant human hephaestin (rhHp) bound copper (determined by inductively coupled plasma mass spectrometry) and exhibited an absorption maximum at ~610 nm consistent with other blue multicopper oxidases such as ceruloplasmin. (wikipedia.org)
  • Hephaestin is a member of the family of copper oxidases that includes mammalian ceruloplasmin, yeast fet3 and fet5, and bacterial ascorbate oxidase, among others. (wikipedia.org)
  • Once inside the hepatocyte, copper chaperones such as Atox1 and glutathione transfers copper to the trans-Golgi network where ATP7B, a P-type ATPase transports copper for incorporation into ceruloplasmin and for export to bile. (medscape.com)
  • Copper absorbed by the proximal small intestine is taken up by the liver that plays a central role in copper homeostasis by utilizing copper for metabolic needs and excreting excess copper into bile and thereby the gut, or exporting copper as copper containing ceruloplasmin used in iron metabolism and as nonceruloplasmin-bound copper that may be used by or pathologically accumulated in other tissues or excreted into urine. (medscape.com)
  • Ceruloplasmin is a copper-containing glycoprotein that is synthesized mainly by hepatocytes. (medscape.com)
  • The complete loss of production of ceruloplasmin due to defects in the ceruloplasmin gene, or aceruloplasminemia, does not lead to copper accumulation, [ 26 ] but in some individuals may lead to tissue iron accumulation. (medscape.com)
  • The copper- containing proteins hephaestin and ceruloplasmin oxidize iron, readying it for transport to the tissues. (banyanbotanicals.com)
  • Copper is an important part of the enzyme ceruloplasmin, which oxidizes iron in the blood so that it can link to hemoglobin and carry oxygen throughout the body. (khaledlotfy.com)
  • Once copper is attached to ceruloplasmin, it is released into the bloodstream and can move to different areas in the body. (khaledlotfy.com)
  • Hephaestin converts iron(II) state, Fe2+, to iron(III) state, Fe3+, and mediates iron efflux most likely in cooperation with the basolateral iron transporter, ferroportin 1. (wikipedia.org)
  • Much of what is known about hephaestin comes from studying heritable mutants of murine iron metabolism. (wikipedia.org)
  • The regulation of hephaestin expression and the protein's role in the larger picture of iron metabolism and homeostasis remain an active area of research. (wikipedia.org)
  • Conversely, it is suggested that states of low dietary intake and low iron stores induce up-regulation of DMT1 as well as Ireg1 and hephaestin, thus simultaneously increasing the enterocyte's capacity for dietary iron uptake on the basolateral surface and export into the circulation on the apical surface. (wikipedia.org)
  • Hephaestin and ceruloplasmin facilitate iron metabolism in the mouse kidney. (voedingsgeneeskunde.nl)
  • To a lesser extent hephaestin has been detected in colon, spleen, kidney, breast, placenta and bone trabecular cells but its role in these tissues remains to be established. (wikipedia.org)
  • While the structure and kinetic activity of ceruloplasmin have been studied extensively, hephaestin has yet to be investigated at a similar level. (wikipedia.org)
  • The highest expression of hephaestin is found in small intestine. (wikipedia.org)
  • Hephaestin is found on the surface of the cells that line the small intestine. (khaledlotfy.com)
  • Wild type hephaestin localizes in a supra nuclear compartment as well as the basolateral surface. (wikipedia.org)
  • Comparative models of hephaestin's structure have been created using established crystallographic data from ceruloplasmin, and these studies suggest that many of the structural features important in the enzymatic function of the latter are also conserved in the former. (wikipedia.org)