Apolipoprotein A2-Mangel ist dies völlige Fehlen des proteins im Plasma. Dieser Defekt kann laborchemisch nachgewiesen werden, eine Auswirkung auf die Klinik ist nicht bekannt.
Apolipoprotein-Mangel | ||||
APOA5 | ||||
APOB | ||||
APOC1 | ||||
APOC2 | ||||
APOC3 | ||||
APOE | ||||
APOL1 | ||||
APOM | ||||
Apolipoprotein A1-Mangel | ||||
Apolipoprotein A2-Mangel | ||||
APOA2 | ||||
Apolipoprotein F-Mangel | ||||
Apolipoprotein H-Mangel | ||||
CLU | ||||
1. |
Deeb SS et al. (1990) A splice-junction mutation responsible for familial apolipoprotein A-II deficiency. |
2. |
Allayee H et al. (2003) Biochemical and genetic association of plasma apolipoprotein A-II levels with familial combined hyperlipidemia. |
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. |
5. |
Lackner KJ et al. (1984) The human apolipoprotein A-II gene is located on chromosome 1. |
6. |
Lusis AJ et al. (1983) Genetic control of lipid transport in mice. II. Genes controlling structure of high density lipoproteins. |
7. |
Knott TJ et al. (1984) Chromosomal localization of the human apoprotein CI gene and of a polymorphic apoprotein AII gene. |
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. |
9. |
Middleton-Price HR et al. (1988) Regional chromosomal localisation of APOA2 to 1q21-1q23. |
10. |
Knott TJ et al. (1985) The human apolipoprotein AII gene: structural organization and sites of expression. |
11. |
Lackner KJ et al. (1985) The human apolipoprotein A-II gene: complete nucleic acid sequence and genomic organization. |
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. |
13. |
Scott J et al. (1985) High-density lipoprotein composition is altered by a common DNA polymorphism adjacent to apoprotein AII gene in man. |
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. |
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. |
17. |
OMIM.ORG article Omim 107670 |