Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Angiopoietin-like 3

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.

Genetests:

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

Related Diseases:

Hypobetalipoproteinemia
ANGPTL3
APOB

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.

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 external link
11.

OMIM.ORG article

Omim 604774 external link
12.

Wikipedia article

Wikipedia EN (ANGPTL3) external link
Update: Aug. 14, 2020
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