Apolipoprotein A2
Das Gen APOA2 kodiert das Apolipoprotein A II, das zweit häufigste Protein in den HDL Partikeln. Die physiologische Rolle ist noch unklar. Wahrscheinlich kann die Funktion auch von anderen Proteinen übernommen werden, denn es wurde ein Fall mit absolutem APOA2-Mangel beschrieben, der kleine klinischen Auffälligkeiten zeigte.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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.
|
3. |
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.
|
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.
|
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.
|
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
|
18. |
Orphanet article
Orphanet ID 188814
|
19. |
NCBI article
NCBI 336
|
Update: 14. August 2020