Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The GPIHBP1 gene encodes a protein that anchors the lipoproteinlipase to endothelial cells. Mutations cause chylomicronemia and hypertriglyceridemia.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
Hypertriglyceridemia
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APOA5
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APOE
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Combined lipase deficiency
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LMF1
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GPIHBP1
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LIPC
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LIPE
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LPL
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Plasma triglyceride level quantitative trait locus
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ANGPTL4
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Transient infantile hypertriglyceridemia
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GPD1
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Chylomicronemia
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ABCA1
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ABCG5
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APOA5
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APOC2
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APOE
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Chylomicron retention disease
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SAR1B
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GPIHBP1
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LCAT
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LIPA
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LIPC
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LMF1
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LPL
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SAR1B
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| 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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| 5. |
NCBI article NCBI 338328
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| 6. |
OMIM.ORG article Omim 612757
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| 7. |
Orphanet article Orphanet ID 201108
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| 8. |
Wikipedia article Wikipedia EN (GPIHBP1)
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