Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Vitamin D-binding protein

The protein encoded by the GC gene belongs to the albumin gene family. Its best characterized functions are binding and transport of vitamin D metabolites. In this capacity it is found in several body fluids and on cell surfaces. Genetic studies revieled an association of some polymorphisms with Graves disease.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Graves disease
GC

References:

1.

Lee WM et al. (1992) The extracellular actin-scavenger system and actin toxicity.

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2.

Mars M et al. (1976) Dentinogenesis imperfecta. Report of a 5-generation family.

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3.

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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4.

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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5.

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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6.

HIRSCHFELD J et al. (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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7.

PARKER WC et al. (1963) DETERMINATION OF PHENOTYPES IN THE HUMAN GROUP-SPECIFIC COMPONENT (GC) SYSTEM BY STARCH GEL ELECTROPHORESIS.

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8.

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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9.

BEARN AG et al. (1964) GENETIC AND BIOCHEMICAL CONSIDERATIONS OF THE SERUM GROUP-SPECIFIC COMPONENT.

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10.

HIRSCHFELD J et al. (1959) Immune-electrophoretic demonstration of qualitative differences in human sera and their relation to the haptoglobins.

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11.

Yang F et al. (1990) Mapping and conservation of the group-specific component gene in mouse.

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12.

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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13.

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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14.

Yang F et al. (1985) Evolutionary and structural relationships among the group-specific component, albumin and alpha-fetoprotein.

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15.

Yang F et al. (1985) Human group-specific component (Gc) is a member of the albumin family.

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16.

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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17.

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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18.

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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19.

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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20.

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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21.

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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22.

Szathmary EJ et al. (1987) The effect of Gc genotype on fasting insulin level in Dogrib Indians.

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23.

et al. (1987) Genetic susceptibility to AIDS: absence of an association with group-specific component (Gc)

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24.

McCombs JL et al. (1986) Chromosomal localization of group-specific component by in situ hybridization.

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25.

Pierce EA et al. (1985) Monoclonal antibodies to human vitamin D-binding protein.

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26.

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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27.

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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28.

Daiger SP et al. (1975) Group-specific component (Gc) proteins bind vitamin D and 25-hydroxyvitamin D.

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29.

Henningsen K et al. (1969) B-F chromosome translocation associated with father-child incompatibility within the Gc-system.

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30.

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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31.

German JL et al. (1969) Autoradiographic studies of human chromosomes. II. Data concerning the position of the MN locus.

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32.

Weitkamp LR et al. (1966) Genetic linkage between structural loci for albumin and group specific component (Gc).

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33.

Mourant AE et al. (1976) Sunshine and the geographical distribution of the alleles of the Gc system of plasma proteins.

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34.

Karlsson S et al. (1980) Frequency of Gc alleles and a variant Gc allele in Iceland.

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35.

Thymann M et al. (1982) Five new Gc variants detected by isoelectric focusing in agarose gel.

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36.

Daiger SP et al. (1984) Heritability of quantitative variation at the group-specific component (Gc) locus.

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37.

Petrini M et al. () Linkage between surface immunoglobulin and cytoskeleton of B lymphocytes may involve Gc protein.

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38.

Dykes D et al. (1983) Description of six new Gc variants.

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39.

Vavrusa B et al. (1983) A deficiency mutant of the Gc system.

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40.

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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41.

Dykes DD et al. (1982) Gc 1C12: a new Gc variant.

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42.

Ball SP et al. (1982) Linkage between dentinogenesis imperfecta and Gc.

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43.

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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44.

Constans J et al. (1977) Group-specific component: evidence for two subtypes of the Gc1 gene.

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45.

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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46.

Braun A et al. (1993) Sequence and organization of the human vitamin D-binding protein gene.

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47.

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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48.

Weitkamp LR et al. (1978) Concerning the linkage relationships of the Gc and MNSs loci.

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49.

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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50.

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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51.

Chautard-Freire-Maia EA et al. (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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52.

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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Update: Sept. 26, 2018