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Coeruloplasmin

Das vom CP-Gen kodierte Protein, Coeruloplasmin, ist eine Metalloprotein. Es bindet das meiste Kupfer im Körper und ist für die Peroxidation von Eisen(II)Transferrin in Eisen(III)Transferrin verantwortlich. Mutationen führen zu einem gestörten Kupfer- und Eisenstoffwechsel mit Anreicherung in verschiedenen Geweben und konsekutiven Gewebsschädigungen. Je nach Ausprägung des Coeruloplasminmangels, der Art der Mutation und der allele dosage liegt eine rezessive oder dominante Vererbung vor.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Acoeruloplasminämie/Hypocoeruloplasminämie
CP

Referenzen:

1.

Takahashi N et al. (1984) Single-chain structure of human ceruloplasmin: the complete amino acid sequence of the whole molecule.

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2.

Shreffler DC et al. (1967) Electrophoretic variation in human serum ceruloplasmin: a new genetic polymorphism.

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3.

None (1968) Heterogeneity and structure of ceruloplasmin.

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4.

Kellermann G et al. (1972) On the population genetics of the ceruloplasmin polymorphism.

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5.

Shokeir MH et al. (1970) Two new ceruloplasmin variants in Negroes--data on three populations.

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6.

Schwartzman AL et al. (1980) Complex molecular structure of the gene coding for rat ceruloplasmin.

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7.

Church WR et al. (1984) Coagulation factors V and VIII and ceruloplasmin constitute a family of structurally related proteins.

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8.

None () Genetic polymorphism of ceruloplasmin in the rat.

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9.

Takahashi N et al. (1983) Internal triplication in the structure of human ceruloplasmin.

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10.

Hahn P et al. (2004) Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration.

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11.

None (1983) Evidence for linkage between the loci for transferrin and ceruloplasmin in man.

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12.

Dwulet FE et al. (1981) Internal duplication and evolution of human ceruloplasmin.

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13.

Mohrenweiser HW et al. (1982) Identification of several electrophoretic variants of human ceruloplasmin including CpMichigan, a new polymorphism.

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14.

Daimon M et al. (1995) Fine structure of the human ceruloplasmin gene.

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15.

Klomp LW et al. (1996) Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia.

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16.

Mukhopadhyay CK et al. (1998) Role of ceruloplasmin in cellular iron uptake.

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17.

Musci G et al. (2014) Ceruloplasmin-ferroportin system of iron traffic in vertebrates.

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18.

Koschinsky ML et al. (1987) Isolation and characterization of a processed gene for human ceruloplasmin.

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19.

Morita H et al. (1992) [A case of ceruloplasmin deficiency which showed dementia, ataxia and iron deposition in the brain].

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20.

Krawczak M et al. (1991) Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.

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21.

Miyajima H et al. (1987) Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration.

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22.

Lee GR et al. (1968) Iron metabolism in copper-deficient swine.

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23.

Osaki S et al. (1966) The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum.

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24.

Yoshida K et al. (1995) A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans.

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25.

Harris ZL et al. (1995) Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.

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26.

Okamoto N et al. (1996) Hereditary ceruloplasmin deficiency with hemosiderosis.

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27.

Takahashi Y et al. (1996) Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease.

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28.

Harris ZL et al. (1999) Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux.

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29.

Miyajima H et al. (2001) Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation.

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30.

Stasi K et al. (2007) Ceruloplasmin upregulation in retina of murine and human glaucomatous eyes.

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31.

Yang FM et al. (1990) Human ceruloplasmin. Tissue-specific expression of transcripts produced by alternative splicing.

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32.

Koschinsky ML et al. (1986) Complete cDNA sequence of human preceruloplasmin.

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33.

Wang H et al. (1988) Localization of the processed gene for human ceruloplasmin to chromosome region 8q21.13----q23.1 by in situ hybridization.

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34.

Royle NJ et al. (1987) Human genes encoding prothrombin and ceruloplasmin map to 11p11-q12 and 3q21-24, respectively.

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35.

NCBI article

NCBI 1356 external link
36.

OMIM.ORG article

Omim 117700 external link
37.

Orphanet article

Orphanet ID 120778 external link
38.

Wikipedia Artikel

Wikipedia DE (Caeruloplasmin) external link
Update: 14. August 2020
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