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Caeruloplasmin (Ceruloplasmin) is the major blue copper binding protein in tissue and is coded by the CP gene at 3q23-q24 and expressed as an 1065 amino acid pro-peptide. The processed form is a copper ferroxidase (multicopper oxidase, MCO) that contains 6 copper ions. It is involved in iron transport across the cell membrane and a membrane bound isoform seems to exist. It also provides Cu2+ ions for the ascorbate-mediated deaminase degradation of the heparan sulfate chains of glypican-1 in secretory intracellular compartments. Defects in CP cause aceruloplasminemia (ACERULOP) which is an autosomal recessive disorder of iron metabolism characterized by iron accumulation in the brain as well as visceral organs. The phenotype is the triad of:
  1. Retinal degeneration
  2. Diabetes mellitus
  3. Basal ganglia degeneration
    • Dysarthria
    • Dystonia
    • Ataxia
    • Cog wheel rigidity
    • Dementia

The low caeruloplasmin levels in Wilson's disease is due to defects in the copper-transporting ATPase 2 coded by ATP7B.