hephaestin (HEPH, KIAA0698, UNQ2562/PRO6242)

Function

• ferroxidase for Fe+2 to Fe+3 conversion
• copper transport & homeostasis
• iron homeostasis
  • may mediate iron efflux associated to ferroportin 1

Cofactor: binds 6 Cu+/Cu+2 per monomer

Structure

• belongs to the multicopper oxidase family
• contains 6 plastocyanin-like domains

Compartment

membrane

Alternative splicing

named isoforms=2

Expression

• detected in breast, colon, bone trabecural cells, fibroblasts

More general terms

• oxidoreductase
• carrier protein (transporter)
• glycoprotein
• metalloprotein
• membrane protein

Database

• OMIM: https://mirror.omim.org/entry/300167
• UniProt: http://www.uniprot.org/uniprot/Q9BQS7.html