Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
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

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.

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

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3.

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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4.

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

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5.

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

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6.

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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7.

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

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8.

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

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9.

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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10.

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

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11.

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

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12.

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

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13.

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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14.

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

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15.

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

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16.

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

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17.

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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Update: Sept. 26, 2018