Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The protein encoded by the ANGPTL3 gene is an angiopoietin-like secreted factors. This protein may play a role in the regulation of angiogenesis. Mutations cause autosomal recessive hypobetalipoproteinemia.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Cefalù AB et al. () Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing. 
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| 2. |
Musunuru K et al. (2010) Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.
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| 3. |
Pulai JI et al. (1998) Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families.
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| 4. |
Conklin D et al. (1999) Identification of a mammalian angiopoietin-related protein expressed specifically in liver.
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| 5. |
Koishi R et al. (2002) Angptl3 regulates lipid metabolism in mice.
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| 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.
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| 7. |
Shimizugawa T et al. (2002) ANGPTL3 decreases very low density lipoprotein triglyceride clearance by inhibition of lipoprotein lipase.
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| 8. |
Zhang CC et al. (2006) Angiopoietin-like proteins stimulate ex vivo expansion of hematopoietic stem cells.
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| 9. |
Zheng J et al. (2012) Inhibitory receptors bind ANGPTLs and support blood stem cells and leukaemia development.
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| 10. |
NCBI article NCBI 27329
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| 11. |
OMIM.ORG article Omim 604774
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| 12. |
Wikipedia article Wikipedia EN (ANGPTL3)
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