Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Apolipoprotein H

APOH gene encodes apolipoprotein H which is involved in lipid metabolism, coagulation and infections. It has been shown that SNPs are associated with the plasma concentration and thus those SNPs may affect prothrombic tendency in PAPs patients.

Expression

The beta-2 glycoprotein 1 is synthesized by the liver and occasionally by the intestine. Its plasma concentration is 20 mg/dl (range 0-35). Only a small portion is bound to lipoproteins.

Genetests:

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

Related Diseases:

Apolipoprotein H deficiency
APOH

References:

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.

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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17.

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

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18.

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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19.

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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20.

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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21.

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

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22.

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

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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.

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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25.

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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26.

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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27.

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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28.

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

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29.

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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30.

OMIM.ORG article

Omim 138700 external link
31.

NCBI article

NCBI 350 external link
32.

Wikipedia article

Wikipedia EN (Apolipoprotein_H) external link
Update: Aug. 14, 2020
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