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:
Related Diseases:
References:
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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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Martin GA et al. (1988) Isolation and cDNA sequence of human postheparin plasma hepatic triglyceride lipase.
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Cai SJ et al. (1989) Structure of the human hepatic triglyceride lipase gene.
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Heinzmann C et al. (1988) Two polymorphisms for the human hepatic lipase (HL) gene.
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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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Ameis D et al. (1990) Isolation and characterization of the human hepatic lipase gene.
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Hegele RA et al. (1991) Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency.
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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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Iijima H et al. (2008) Association of an intronic haplotype of the LIPC gene with hyperalphalipoproteinemia in two independent populations.
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Hegele RA et al. (1991) A hepatic lipase gene mutation associated with heritable lipolytic deficiency.
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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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Isaacs A et al. (2004) The -514 C->T hepatic lipase promoter region polymorphism and plasma lipids: a meta-analysis.
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Brown RJ et al. (2004) Severe hypoalphalipoproteinemia in mice expressing human hepatic lipase deficient in binding to heparan sulfate proteoglycan.
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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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Ruel IL et al. (2003) Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians.
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Davis RC et al. (1990) Combined lipase deficiency in the mouse. Evidence of impaired lipase processing and secretion.
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Cefalù AB et al. () Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.
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Orphanet article
Orphanet ID 159980
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NCBI article
NCBI 3990
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OMIM.ORG article
Omim 151670
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Wikipedia article
Wikipedia EN (Hepatic_lipase)
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Update: Aug. 14, 2020