Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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].

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
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.

external link
15.

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

external link
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).

external link
17.

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

external link
18.

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

external link
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.

external link
20.

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

external link
21.

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

external link
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.

external link
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.

external link
24.

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

external link
25.

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

external link
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.

external link
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.

external link
28.

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

external link
29.

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

external link
30.

OMIM.ORG article

Omim 138700 external link
31.

NCBI article

NCBI 350 external link
Update: 14. August 2020
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum