Biological functions of ceruloplasmin and their deficiency caused by mutation in genes regulating copper and iron metabolism.
Ceruloplasmin, a multicopper ferroxidase, is involved in iron and copper homeostasis and integrates these metabolic pathways. Impaired biosynthesis of ceruloplasmin caused by gene mutations disturbs iron metabolism with iron deposition in different organs, especially in the basal ganglia, and severe neuronal damage. Dysfunction of ATP7B, a copper-transporting ATPase leads to the development of Wilson's disease, i.e., multiple abnormalities in copper metabolism associated with reduced synthesis of holoceruloplasmin and biliary copper excretion controlled by both proteins. The lowest content of serum ceruloplasmin is observed in the most grave early neurological form of Wilson's disease (according to N. V. Konovalov's classification), which confirms the important role of ceruloplasmin in the striatal metabolism of catecholamines.
Mzhel'skaya
T I
TI
Laboratory of Neurochemistry, Institute of Neurology, Russian Academy of Medical Sciences, Moscow.
D000251:Adenosine Triphosphatases / Q000235:genetics / Q000378:metabolism; D000818:Animals; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism; D027682:Cation Transport Proteins; D002570:Ceruloplasmin / Q000172:deficiency* / Q000235:genetics / Q000502:physiology*; D003300:Copper / Q000378:metabolism*; D000073840:Copper-Transporting ATPases; D005260:Female; D006527:Hepatolenticular Degeneration / Q000235:genetics* / Q000378:metabolism*; D006706:Homeostasis; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008297:Male; D009154:Mutation
D002352:Carrier Proteins; D027682:Cation Transport Proteins; D003300:Copper; D007501:Iron; D002570:Ceruloplasmin; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases