Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1

The GPIHBP1 gene encodes a protein that anchors the lipoproteinlipase to endothelial cells. Mutations cause chylomicronemia and hypertriglyceridemia.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Hypertriglyceridemia
APOA5
APOE
Combined lipase deficiency
LMF1
GPIHBP1
LIPC
LIPE
LPL
Plasma triglyceride level quantitative trait locus
ANGPTL4
Transient infantile hypertriglyceridemia
GPD1
Chylomicronemia
APOA5
APOC2
APOE
GPIHBP1
LPL

References:

1.

Ioka RX et al. (2003) Expression cloning and characterization of a novel glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein, GPI-HBP1.

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2.

Beigneux AP et al. (2007) Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons.

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3.

Surendran RP et al. (2012) Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.

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4.

Gin P et al. (2012) Chylomicronemia mutations yield new insights into interactions between lipoprotein lipase and GPIHBP1.

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Update: Sept. 26, 2018