Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Angiopoietin-like protein 8

The ANGPTL8 gene encodes an inhibitor of lipolysis. Therefore it is a probably candidate for mutation in hypertriglyceridemia.

Genetests:

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

Related Diseases:

Combined familial hyperlipidemia with dysfunctional VLDL metabolism
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1

References:

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 [^]
7.

OMIM.ORG article

Omim 616223 [^]
8.

Wikipedia article

Wikipedia EN (ANGPTL8) [^]
Update: April 29, 2019