Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Lipase, hepatic

The LIPC gene encodes hepatic triglyceride lipase. The lipase has two functions: It breaks down triglycerides and plays a role in lipoprotein uptake. If mutated hypertryglyceridemia ensues.

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
Combined familial hyperlipidemia with dysfunctional VLDL metabolism
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1
Chylomicronemia
ABCA1
ABCG5
APOA5
APOC2
APOE
Chylomicron retention disease
SAR1B
GPIHBP1
LCAT
LIPA
LIPC
LMF1
LPL
SAR1B

References:

1.

Sparkes RS et al. (1987) Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21.

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2.

Martin GA et al. (1988) Isolation and cDNA sequence of human postheparin plasma hepatic triglyceride lipase.

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3.

Cai SJ et al. (1989) Structure of the human hepatic triglyceride lipase gene.

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4.

Heinzmann C et al. (1988) Two polymorphisms for the human hepatic lipase (HL) gene.

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5.

Datta S et al. (1988) Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase.

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6.

Ameis D et al. (1990) Isolation and characterization of the human hepatic lipase gene.

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7.

Hegele RA et al. (1991) Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency.

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8.

Grarup N et al. (2008) The -250G>A promoter variant in hepatic lipase associates with elevated fasting serum high-density lipoprotein cholesterol modulated by interaction with physical activity in a study of 16,156 Danish subjects.

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9.

Iijima H et al. (2008) Association of an intronic haplotype of the LIPC gene with hyperalphalipoproteinemia in two independent populations.

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10.

Hegele RA et al. (1991) A hepatic lipase gene mutation associated with heritable lipolytic deficiency.

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11.

González-Navarro H et al. (2004) The ligand-binding function of hepatic lipase modulates the development of atherosclerosis in transgenic mice.

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12.

Isaacs A et al. (2004) The -514 C->T hepatic lipase promoter region polymorphism and plasma lipids: a meta-analysis.

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13.

Brown RJ et al. (2004) Severe hypoalphalipoproteinemia in mice expressing human hepatic lipase deficient in binding to heparan sulfate proteoglycan.

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14.

Todorova B et al. (2004) The G-250A promoter polymorphism of the hepatic lipase gene predicts the conversion from impaired glucose tolerance to type 2 diabetes mellitus: the Finnish Diabetes Prevention Study.

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15.

Ruel IL et al. (2003) Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians.

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16.

Davis RC et al. (1990) Combined lipase deficiency in the mouse. Evidence of impaired lipase processing and secretion.

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17.

Cefalù AB et al. () Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.

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18.

Orphanet article

Orphanet ID 159980 external link
19.

NCBI article

NCBI 3990 external link
20.

OMIM.ORG article

Omim 151670 external link
21.

Wikipedia article

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