Angiopoietin ähnlicher Faktor 3
Das Protein, welches vom ANGPTL3-Gen kodiert wird, ist bei der regulation der Angiogenese beteiligt. Mutationen führen zur autosomal rezessiven Hypobetalipoproteinämie.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Cefalù AB et al. () Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.
|
2. |
Musunuru K et al. (2010) Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.
|
3. |
Pulai JI et al. (1998) Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families.
|
4. |
Conklin D et al. (1999) Identification of a mammalian angiopoietin-related protein expressed specifically in liver.
|
5. |
Koishi R et al. (2002) Angptl3 regulates lipid metabolism in mice.
|
6. |
Camenisch G et al. (2002) ANGPTL3 stimulates endothelial cell adhesion and migration via integrin alpha vbeta 3 and induces blood vessel formation in vivo.
|
7. |
Shimizugawa T et al. (2002) ANGPTL3 decreases very low density lipoprotein triglyceride clearance by inhibition of lipoprotein lipase.
|
8. |
Zhang CC et al. (2006) Angiopoietin-like proteins stimulate ex vivo expansion of hematopoietic stem cells.
|
9. |
Zheng J et al. (2012) Inhibitory receptors bind ANGPTLs and support blood stem cells and leukaemia development.
|
10. |
NCBI article
NCBI 27329
|
11. |
OMIM.ORG article
Omim 604774
|
Update: 14. August 2020