Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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 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

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
ABCA1
ABCG5
APOA5
APOC2
APOE
Chylomicron retention disease
SAR1B
GPIHBP1
LCAT
LIPA
LIPC
LMF1
LPL
SAR1B

References:

1.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

NCBI article

NCBI 338328 external link
6.

OMIM.ORG article

Omim 612757 external link
7.

Orphanet article

Orphanet ID 201108 external link
8.

Wikipedia article

Wikipedia EN (GPIHBP1) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues