Vitamin D-Bindungsprotein
Das mit dem Symbol GC bezeichnete Gen kodiert ein Protein, welches zur Albuminfamilie gehört. Die wichtigste Funktion scheint die Bindung und der Transport von Vitamin D-Metaboliten zu sein. Deshalb wird es in vielen Körperflüssigkeiten und auf Zelloberflächen gefunden. Genetische Untersuchungen zeigten die Assoziation einiger Polymorphismen mit dem Morbus Basedow.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Constans J et al. (1983) The polymorphism of the vitamin D-binding protein (Gc); isoelectric focusing in 3 M urea as additional method for identification of genetic variants.
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2. |
Rucknagel DL et al. (1968) The Bangkok variant of the serum group-specific component (Gc) and the frequency of the Gc alleles in Thailand.
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3. |
Daiger SP et al. (1975) Group-specific component (Gc) proteins bind vitamin D and 25-hydroxyvitamin D.
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4. |
Henningsen K et al. (1969) B-F chromosome translocation associated with father-child incompatibility within the Gc-system.
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5. |
Mikkelsen M et al. (1977) Possible localization of Gc-System on chromosome 4. Loss of long arm 4 material associated with father-child incompatibility within the Gc-System.
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6. |
German JL et al. (1969) Autoradiographic studies of human chromosomes. II. Data concerning the position of the MN locus.
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7. |
Mourant AE et al. (1976) Sunshine and the geographical distribution of the alleles of the Gc system of plasma proteins.
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8. |
Karlsson S et al. (1980) Frequency of Gc alleles and a variant Gc allele in Iceland.
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9. |
Thymann M et al. (1982) Five new Gc variants detected by isoelectric focusing in agarose gel.
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10. |
Daiger SP et al. (1984) Heritability of quantitative variation at the group-specific component (Gc) locus.
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11. |
Petrini M et al. () Linkage between surface immunoglobulin and cytoskeleton of B lymphocytes may involve Gc protein.
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12. |
Dykes D et al. (1983) Description of six new Gc variants.
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13. |
Vavrusa B et al. (1983) A deficiency mutant of the Gc system.
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14. |
Lee WM et al. (1992) The extracellular actin-scavenger system and actin toxicity.
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15. |
Dykes DD et al. (1982) Gc 1C12: a new Gc variant.
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16. |
Ball SP et al. (1982) Linkage between dentinogenesis imperfecta and Gc.
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17. |
Cleve H et al. (1977) The vitamin D binding of the common and rare variants of the group-specific component (Gc). An autoradiographic study.
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18. |
Constans J et al. (1977) Group-specific component: evidence for two subtypes of the Gc1 gene.
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19. |
Daiger SP et al. (1977) Detection of genetic variation with radioactive ligands. II. Genetic variants of vitamin D-labeled group-specific component (Gc) proteins.
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20. |
Braun A et al. (1993) Sequence and organization of the human vitamin D-binding protein gene.
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21. |
Kofler A et al. (1995) Characterization of mutants of the vitamin-D-binding protein/group specific component: GC aborigine (1A1) from Australian aborigines and South African blacks, and 2A9 from south Germany.
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22. |
None (1978) Concerning the linkage relationships of the Gc and MNSs loci.
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23. |
Witke WF et al. (1993) Complete structure of the human Gc gene: differences and similarities between members of the albumin gene family.
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24. |
Braun A et al. (1993) Molecular evaluation of an Alu repeat including a polymorphic variable poly(dA) (AluVpA) in the vitamin D binding protein (DBP) gene.
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25. |
None (1979) Concerning the linkage relationships of the Gc and MNSs loci. (Hum. Genet. 43, 215-220, 1978) Disentangling part of the data overlap.
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26. |
Baier LJ et al. (1998) Variations in the vitamin D-binding protein (Gc locus) are associated with oral glucose tolerance in nondiabetic Pima Indians.
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27. |
Pierce EA et al. (1985) Monoclonal antibodies to human vitamin D-binding protein.
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28. |
Weitkamp LR et al. (1966) Genetic linkage between structural loci for albumin and group specific component (Gc).
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29. |
Pani MA et al. (2002) A polymorphism within the vitamin D-binding protein gene is associated with Graves' disease but not with Hashimoto's thyroiditis.
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30. |
Yamamoto Y et al. (1989) Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial piebald trait.
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31. |
Mars M et al. (1976) Dentinogenesis imperfecta. Report of a 5-generation family.
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32. |
Johnson AM et al. (1975) Variants of the group-specific component system as demonstrated by immunofixation electrophoresis. Report of a new variant, Gc Boston (Ge B).
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33. |
Braun A et al. (1992) Molecular analysis of the gene for the human vitamin-D-binding protein (group-specific component): allelic differences of the common genetic GC types.
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34. |
None (1962) The Gc-system. Immuno-electrophoretic studies of normal human sera with special reference to a new genetically determined system (Gc).
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35. |
PARKER WC et al. (1963) DETERMINATION OF PHENOTYPES IN THE HUMAN GROUP-SPECIFIC COMPONENT (GC) SYSTEM BY STARCH GEL ELECTROPHORESIS.
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36. |
CLEVE H et al. (1963) TWO GENETIC VARIANTS OF THE GROUP-SPECIFIC COMPONENT OF HUMAN SERUM: GC CHIPPEWA AND GC ABORIGINE.
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37. |
BEARN AG et al. (1964) GENETIC AND BIOCHEMICAL CONSIDERATIONS OF THE SERUM GROUP-SPECIFIC COMPONENT.
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38. |
None (1959) Immune-electrophoretic demonstration of qualitative differences in human sera and their relation to the haptoglobins.
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39. |
Yang F et al. (1990) Mapping and conservation of the group-specific component gene in mouse.
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40. |
Yamamoto N et al. (1991) Vitamin D3 binding protein (group-specific component) is a precursor for the macrophage-activating signal factor from lysophosphatidylcholine-treated lymphocytes.
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41. |
Svasti J et al. (1979) Molecular basis for the three major forms of human serum vitamin D binding protein (group-specific component).
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42. |
Yang F et al. (1985) Evolutionary and structural relationships among the group-specific component, albumin and alpha-fetoprotein.
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43. |
Yang F et al. (1985) Human group-specific component (Gc) is a member of the albumin family.
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44. |
Cooke NE et al. (1985) Serum vitamin D-binding protein is a third member of the albumin and alpha fetoprotein gene family.
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45. |
Schoentgen F et al. (1985) Homology between the human vitamin D-binding protein (group specific component), alpha-fetoprotein and serum albumin.
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46. |
Yasuda T et al. (1989) A hereditary double double-banded variation in the vitamin D-binding protein (GC) system analyzed by immunoblotting: duplication of the 1F and 1A2 genes?
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47. |
Eales LJ et al. (1987) Association of different allelic forms of group specific component with susceptibility to and clinical manifestation of human immunodeficiency virus infection.
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48. |
Cooke NE et al. (1986) Direct regional assignment of the gene for vitamin D binding protein (Gc-globulin) to human chromosome 4q11-q13 and identification of an associated DNA polymorphism.
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49. |
None (1987) The effect of Gc genotype on fasting insulin level in Dogrib Indians.
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50. |
None (1987) Genetic susceptibility to AIDS: absence of an association with group-specific component (Gc)
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51. |
McCombs JL et al. (1986) Chromosomal localization of group-specific component by in situ hybridization.
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52. |
Cleve H et al. (1967) On the distribution of the Gc variant Gc Aborigine in Melanesian populations; determination of Gc-types in sera from Tongariki Island, New Hebrides.
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53. |
NCBI article
NCBI 2638
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54. |
OMIM.ORG article
Omim 139200
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55. |
Wikipedia Artikel
Wikipedia DE (Vitamin-D-bindendes_Protein)
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Update: 14. August 2020