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

Endothelial lipase

The LIPG gene encodes a lipase which is involved in intravascular lipolysis. Therefore it is a probably candidate for mutation in 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
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Combined familial hyperlipidemia with dysfunctional VLDL metabolism
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1

References:

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 external link
10.

OMIM.ORG article

Omim 603684 external link
11.

Wikipedia article

Wikipedia EN (Endothelial_lipase) external link
Update: Aug. 14, 2020
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