Endotheliale Lipase
Das LIPG-Gen kodiert eine Lipase, die intravasculär an der Lipolyse von Triglyceriden beteiligt ist. Somit ist dieses Gen ein Kandidat für Störungen im Fettstoffwechsel mit überwiegender Hypertriglyceridämie.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Cefalù AB et al. () Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.
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2. |
Jaye M et al. (1999) A novel endothelial-derived lipase that modulates HDL metabolism.
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3. |
Hirata K et al. (1999) Cloning of a unique lipase from endothelial cells extends the lipase gene family.
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4. |
Ishida T et al. (2003) Endothelial lipase is a major determinant of HDL level.
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5. |
Jin W et al. (2003) Inhibition of endothelial lipase causes increased HDL cholesterol levels in vivo.
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6. |
Yamakawa-Kobayashi K et al. (2003) Relationship between serum HDL-C levels and common genetic variants of the endothelial lipase gene in Japanese school-aged children.
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7. |
Ishida T et al. (2004) Molecular cloning of nonsecreted endothelial cell-derived lipase isoforms.
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8. |
Ishida T et al. (2004) Endothelial lipase modulates susceptibility to atherosclerosis in apolipoprotein-E-deficient mice.
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9. |
NCBI article
NCBI 9388
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10. |
OMIM.ORG article
Omim 603684
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Update: 14. August 2020