Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Apolipoprotein A2 deficiency

Apolipoprotein A2 deficiency is characterized by the absent of the protein in plasma. The defekt can be demonstrated biochemically, but no severe clinical symptoms are associated with that disorder.

Systematic

Apolipoprotein deficiency
APOA5
APOB
APOC1
APOC2
APOC3
APOE
APOL1
APOM
Apolipoprotein A1 deficiency
Apolipoprotein A2 deficiency
APOA2
Apolipoprotein F deficiency
Apolipoprotein H deficiency
CLU

References:

1.

Oakey RJ et al. (1992) Construction of a physical map on mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA.

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2.

Deeb SS et al. (1990) A splice-junction mutation responsible for familial apolipoprotein A-II deficiency.

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3.

Tsao YK et al. (1985) Isolation and characterization of the human apolipoprotein A-II gene. Electron microscopic analysis of RNA:DNA hybrids, nucleotide sequence, identification of a polymorphic MspI site, and general structural organization of apolipoprotein genes.

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4.

Rogne S et al. (1989) The genes for apolipoprotein all (APOA2) and the Duffy blood group (FY) are linked on chromosome 1 in man.

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5.

Scott J et al. (1985) High-density lipoprotein composition is altered by a common DNA polymorphism adjacent to apoprotein AII gene in man.

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6.

Kessling AM et al. (1988) DNA polymorphisms of the apolipoprotein AII and AI-CIII-AIV genes: a study in men selected for differences in high-density-lipoprotein cholesterol concentration.

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7.

Lackner KJ et al. (1985) The human apolipoprotein A-II gene: complete nucleic acid sequence and genomic organization.

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8.

Knott TJ et al. (1985) The human apolipoprotein AII gene: structural organization and sites of expression.

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9.

Middleton-Price HR et al. (1988) Regional chromosomal localisation of APOA2 to 1q21-1q23.

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10.

Moore MN et al. (1984) Human apolipoprotein A-II: nucleotide sequence of a cloned cDNA, and localization of its structural gene on human chromosome 1.

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11.

Knott TJ et al. (1984) Chromosomal localization of the human apoprotein CI gene and of a polymorphic apoprotein AII gene.

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12.

Lusis AJ et al. (1983) Genetic control of lipid transport in mice. II. Genes controlling structure of high density lipoproteins.

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13.

Lackner KJ et al. (1984) The human apolipoprotein A-II gene is located on chromosome 1.

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14.

Warden CH et al. (1993) Evidence for linkage of the apolipoprotein A-II locus to plasma apolipoprotein A-II and free fatty acid levels in mice and humans.

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15.

Takada D et al. (2002) Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.

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16.

Allayee H et al. (2003) Biochemical and genetic association of plasma apolipoprotein A-II levels with familial combined hyperlipidemia.

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17.

OMIM.ORG article

Omim 107670 [^]
Update: April 29, 2019