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.
32.
In a study by Howell et al . patients were located and studied by means of complete histories and physical examinations, analyses of serum trace metals, ceruloplasmin concentration, urine and serum amino acids, and routine metabolic urine screens.
33.
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.
34.
The "'gamma interferon inhibitor of translation element "'or "'GAIT element "'is a cis-acting RNA element located in the 3'- UTR of the ceruloplasmin ( Cp ) mRNA.
35.
Liver cells also carry the CMT1 protein, and metallothionein and ATOX1 bind it inside the cell, but here it is ATP7B that links copper to ceruloplasmin and releases it into the bloodstream, as well as removing excess copper by secreting it into bile.
36.
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.
37.
His work in the area of human genetics and liver disease led him to define the genetic nature of Wilson's Disease, which affects the liver and brain, and showed that the disease was associated with a deficiency in the blood of ceruloplasmin, a copper-binding protein.
38.
There is no totally reliable test for Wilson's disease, but levels of ceruloplasmin and copper in the blood, as well of the amount of copper excreted in urine during a 24-hour period, are together used to form an impression of the amount of copper in the body.
39.
Ceruloplasmin exhibits a copper-dependent oxidase activity, which is associated with possible oxidation of Fe 2 + ( ferrous iron ) into Fe 3 + ( ferric iron ), therefore assisting in its transport in the plasma in association with transferrin, which can carry iron only in the ferric state.
40.
It is not clear why Wilson's disease causes hemolysis, but various lines of evidence suggest that a high level of free ( non-ceruloplasmin bound ) copper has a direct effect on either oxidation of hemoglobin, inhibition of energy-supplying enzymes in the red blood cell, or direct damage to the cell membrane.
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