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:
Related Diseases:
References:
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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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Update: Aug. 14, 2020