Apolipoprotein A2
The APOA2 gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of HDL particles. Its physiological role is probably redundant. As a case of APOA2 deficiency is reported that exhibits no clinical abnormalities.
Genetests:
Related Diseases:
References:
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Deeb SS et al. (1990) A splice-junction mutation responsible for familial apolipoprotein A-II deficiency.
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Allayee H et al. (2003) Biochemical and genetic association of plasma apolipoprotein A-II levels with familial combined hyperlipidemia.
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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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4. |
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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Lackner KJ et al. (1984) The human apolipoprotein A-II gene is located on chromosome 1.
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6. |
Lusis AJ et al. (1983) Genetic control of lipid transport in mice. II. Genes controlling structure of high density lipoproteins.
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7. |
Knott TJ et al. (1984) Chromosomal localization of the human apoprotein CI gene and of a polymorphic apoprotein AII gene.
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8. |
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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Middleton-Price HR et al. (1988) Regional chromosomal localisation of APOA2 to 1q21-1q23.
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10. |
Knott TJ et al. (1985) The human apolipoprotein AII gene: structural organization and sites of expression.
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11. |
Lackner KJ et al. (1985) The human apolipoprotein A-II gene: complete nucleic acid sequence and genomic organization.
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12. |
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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13. |
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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14. |
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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15. |
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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16. |
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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OMIM.ORG article
Omim 107670
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Orphanet article
Orphanet ID 188814
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NCBI article
NCBI 336
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20. |
Wikipedia article
Wikipedia EN (APOA2)
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Update: Aug. 14, 2020