Das Produkt des GPIHBP1-Gens ist ein Protein, welches die Lipoproteinlipase (LPL) an den Endothelzellen verankert und damit an der Hydrolyse der Triglyceride beteiligt ist. Mutationen führen zu Chylomicronämie und Hypertriglyceridämie.
Klinisch | Untersuchungsmethoden | Familienuntersuchung |
Bearbeitungszeit | 5 Tage | |
Probentyp | genomische DNS |
Klinisch | Untersuchungsmethoden | Hochdurchsatz-Sequenzierung |
Bearbeitungszeit | 25 Tage | |
Probentyp | genomische DNS |
Klinisch | Untersuchungsmethoden | Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens |
Bearbeitungszeit | 25 Tage | |
Probentyp | genomische DNS |
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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. ![]() |
2. |
Beigneux AP et al. (2007) Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons. ![]() |
3. |
Surendran RP et al. (2012) Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. ![]() |
4. |
Gin P et al. (2012) Chylomicronemia mutations yield new insights into interactions between lipoprotein lipase and GPIHBP1. ![]() |
5. |
NCBI article NCBI 338328![]() |
6. |
OMIM.ORG article Omim 612757![]() |
7. |
Orphanet article Orphanet ID 201108![]() |