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Ceruloplasmin (or caeruloplasmin) is a ferroxidase enzyme that in humans is encoded by the CP gene. [ 5 ] [ 6 ] [ 7 ] Ceruloplasmin is the major copper -carrying protein in the blood, and in addition plays a role in iron metabolism .
Levels of ceruloplasmin are abnormally low (<0.2 g/L) in 80–95% of cases. [5] It can be present at normal levels, though, in people with ongoing inflammation, as it is an acute phase protein. Low ceruloplasmin is also found in Menkes disease and aceruloplasminemia, which are related to, but much rarer than Wilson's disease.
Aceruloplasminemia has an autosomal recessive pattern of inheritance.. Aceruloplasminemia is caused by a mutation (a five-base pair insertion in exon 7 [3]) in the CP gene, which provides instructions for making a protein called ceruloplasmin, a protein involved in iron transport and processing.
Physiological pathway of copper in human body. Cu = copper, CP = ceruloplasmin, ATP7B protein is in Hepatocyte. Simple model of structural feature of ATP7B protein. Cu=Copper binding motif. Wilson disease protein (WND), also known as ATP7B protein, is a copper-transporting P-type ATPase which is encoded by the ATP7B gene.
Copper deficiency, or hypocupremia, is defined as insufficient copper to meet the body's needs, or as a serum copper level below the normal range. [1] Symptoms may include fatigue, decreased red blood cells, early greying of the hair, and neurological problems presenting as numbness, tingling, muscle weakness, and ataxia. [2]
Overall, α 2-macroglobulin is the largest major nonimmunoglobulin protein in human plasma. The amino acid sequence of α 2 -macroglobulin has been shown to be 71% the same as that of the pregnancy zone protein (PZP; also known as pregnancy-associated α 2 -glycoprotein).
Ceruloplasmin is the major copper-carrying protein in the blood. Ceruloplasmin exhibits oxidase activity, which is associated with possible oxidation of Fe(II) into Fe(III), therefore assisting in its transport in the blood plasma in association with transferrin, which can carry iron only in the Fe(III) state.
In human, the F8 gene is located on the X chromosome at position q28. Factor VIII was first characterized in 1984 by scientists at Genentech. [13] The gene for factor VIII is located on the X chromosome (Xq28). The gene for factor VIII presents an interesting primary structure, as another gene is embedded in one of its introns. [14]