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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 .
Ceruloplasmin. 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.
11979 Ensembl ENSG00000123191 ENSMUSG00000006567 UniProt P35670 Q64446 RefSeq (mRNA) NM_000053 NM_001005918 NM_001243182 NM_001330578 NM_001330579 NM_007511 RefSeq (protein) NP_000044 NP_001005918 NP_001230111 NP_001317507 NP_001317508 NP_000044.2 NP_000044.2 NP_001005918.1 NP_001230111.1 NP_031537 NP_001390638 Location (UCSC) Chr 13: 51.93 – 52.01 Mb Chr 8: 22.48 – 22.55 Mb PubMed search ...
Alopecia occurs for various reasons, including genetics, autoimmune disorders where the immune system attacks hair follicles, hormonal changes, medical treatments like chemotherapy, or other factors.
Menkes syndrome can be diagnosed by blood tests of the copper and ceruloplasmin levels, skin biopsy, and optical microscopic examination of the hair to view characteristic Menkes abnormalities. X-rays of the skull and skeleton are conducted to look for abnormalities in bone formation. [ 7 ]
A number of lifestyle changes can prevent and treat pelvic floor dysfunction. If you have difficulties with your pelvic floor, certain healthy habits can reduce the severity of your symptoms. Try ...
Normal total protein levels are not sufficient to rule out multiple myeloma or other malignant paraproteinemias, but they may also be the cause of moderate-to-marked hyperproteinemia. To determine the reason behind the elevated serum total protein, a serum protein electrophoresis should be carried out. [2] clinical significance