Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Acoeruloplasminämie/Hypocoeruloplasminämie
CP

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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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5.

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

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6.

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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7.

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

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8.

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

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9.

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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10.

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

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11.

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

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12.

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

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13.

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

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14.

Poulik MD et al. (1968) Heterogeneity and structure of ceruloplasmin.

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

Stolc V et al. () Genetic polymorphism of ceruloplasmin in the rat.

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22.

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

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23.

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

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24.

Weitkamp LR et al. (1983) Evidence for linkage between the loci for transferrin and ceruloplasmin in man.

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25.

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

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26.

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

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27.

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

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28.

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

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29.

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

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30.

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

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31.

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

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32.

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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33.

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

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34.

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

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