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Apolipoprotein H

Das APOH Gen kodiert das Apolipoprotein H, welches die Brücke zwischen Lipidstoffwechsel, Koagulation und Infektabwehr schlägt. Es wurde gefunden, dass einige SNPs eine Bedeutung für die Plasmakonzentration besitzen. Damit könnten sie auch einen Effekt auf die prothombotische Wirkung insbesondere bei Patienten mit Phospholipid-Antikörpern besitzen.

Expression

Das beta-2-Glycoprotein wird in der Leber und sporadisch auch in den Darmzellen gebildet. Die Plasmakonzentration betragt 20mg/dl (Bereich 0-35). Nur ein geringer Anteil des Proteins wird an Lipoproteine gebunden.

Gentests:

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

Verknüpfte Erkrankungen:

Apolipoprotein H-Mangel
APOH

Referenzen:

1.

Haupt H et al. (1968) [On a hereditary beta-2-glycoprotein I deficiency].

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2.

Sanghera DK et al. (1997) Molecular basis of the apolipoprotein H (beta 2-glycoprotein I) protein polymorphism.

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3.

Sheng Y et al. (1997) Cloning and characterization of the gene encoding the mouse beta 2-glycoprotein I.

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4.

Steinkasserer A et al. (1993) Human beta 2-glycoprotein I: molecular analysis of DNA and amino acid polymorphism.

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5.

Nakaya Y et al. (1980) Activation of human post heparin lipoprotein lipase by apolipoprotein H (beta 2-glycoprotein I).

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6.

Rahimi AG et al. (1977) Serum protein polymorphisms in four populations of Afghanistan.

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7.

Lozier J et al. (1984) Complete amino acid sequence of human plasma beta 2-glycoprotein I.

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8.

None (1968) [Genetic studies on the deficiency of beta 2-glycoprotein I of human serum].

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9.

Koppe AL et al. (1970) Investigations on the genetics and population genetics of the beta 2-glycoprotein I polymorphism.

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10.

Walter H et al. (1979) On the population genetics of beta2-glycoprotein I.

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11.

Hoeg JM et al. (1985) Characterization of plasma lipids and lipoproteins in patients with beta 2-glycoprotein I (apolipoprotein H) deficiency.

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12.

Kamboh MI et al. (1988) Genetic studies of human apolipoproteins. IV. Structural heterogeneity of apolipoprotein H (beta 2-glycoprotein I).

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13.

Richter A et al. (1988) Genetic variations of human serum beta 2-glycoprotein I demonstrated by isoelectric focusing.

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14.

Sepehrnia B et al. (1988) Genetic studies of human apolipoproteins. VII. Population distribution of polymorphisms of apolipoproteins A-I, A-II, A-IV, C-II, E, and H in Nigeria.

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15.

Sepehrnia B et al. (1989) Genetic studies of human apolipoproteins. VIII. Role of the apolipoprotein H polymorphism in relation to serum lipoprotein concentrations.

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16.

McNeil HP et al. (1990) Anti-phospholipid antibodies are directed against a complex antigen that includes a lipid-binding inhibitor of coagulation: beta 2-glycoprotein I (apolipoprotein H).

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17.

Agar C et al. (2010) Beta2-glycoprotein I can exist in 2 conformations: implications for our understanding of the antiphospholipid syndrome.

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18.

Mehdi H et al. (1991) Nucleotide sequence and expression of the human gene encoding apolipoprotein H (beta 2-glycoprotein I).

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19.

Steinkasserer A et al. (1992) Assignment of apolipoprotein H (APOH: beta-2-glycoprotein I) to human chromosome 17q23----qter; determination of the major expression site.

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20.

Nonaka M et al. (1992) Molecular cloning of mouse beta 2-glycoprotein I and mapping of the gene to chromosome 11.

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21.

Cleve H et al. (1992) Genetic polymorphism of apolipoprotein H (beta 2-glycoprotein I) in African blacks from the Ivory Coast.

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22.

Mehdi H et al. (2003) A functional polymorphism at the transcriptional initiation site in beta2-glycoprotein I (apolipoprotein H) associated with reduced gene expression and lower plasma levels of beta2-glycoprotein I.

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23.

Sanghera DK et al. (2001) Chimpanzee apolipoprotein H (beta2-glycoprotein I): report on the gene structure, a common polymorphism, and a high prevalence of antiphospholipid antibodies.

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24.

Sheng Y et al. (2001) Impaired thrombin generation in beta 2-glycoprotein I null mice.

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25.

Mehdi H et al. () Genetic variation in the apolipoprotein H (beta2-glycoprotein I) gene affects plasma apolipoprotein H concentrations.

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26.

Hirose N et al. (1999) A role for the polymorphism at position 247 of the beta2-glycoprotein I gene in the generation of anti-beta2-glycoprotein I antibodies in the antiphospholipid syndrome.

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27.

Sanghera DK et al. (1997) Identification of structural mutations in the fifth domain of apolipoprotein H (beta 2-glycoprotein I) which affect phospholipid binding.

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28.

Cleve H et al. (1969) Further family studies on the genetic control of beta 2-glycoprotein I concentration in human serum.

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29.

Bancsi LF et al. (1992) Beta 2-glycoprotein I deficiency and the risk of thrombosis.

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30.

OMIM.ORG article

Omim 138700 external link
31.

NCBI article

NCBI 350 external link
Update: 14. August 2020
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