Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The ANGPTL8 gene encodes an inhibitor of lipolysis. Therefore it is a probably candidate for mutation in hypertriglyceridemia.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
Combined familial hyperlipidemia with dysfunctional VLDL metabolism
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ANGPTL8
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APOA1
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APOA4
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APOA5
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APOC3
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CETP
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GALNT2
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LCAT
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LIPC
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LIPG
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LPL
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RXRG
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USF1
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| 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. |
None (2012) Lipasin, a novel nutritionally-regulated liver-enriched factor that regulates serum triglyceride levels.
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| 3. |
Quagliarini F et al. (2012) Atypical angiopoietin-like protein that regulates ANGPTL3.
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| 4. |
Tseng YH et al. (2014) Chromosome 19 open reading frame 80 is upregulated by thyroid hormone and modulates autophagy and lipid metabolism.
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| 5. |
Gusarova V et al. (2014) ANGPTL8/betatrophin does not control pancreatic beta cell expansion.
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| 6. |
NCBI article NCBI 55908
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| 7. |
OMIM.ORG article Omim 616223
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| 8. |
Wikipedia article Wikipedia EN (ANGPTL8)
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