Hepatic triglyceride lipase Deficiency

Alternative name(s) : LIPC Deficiency, HL Deficiency, High density lipoprotein cholesterol level quantitative trait locus 12,HDLCQ12

Gene_locus : 1

Mutation : 12

OMIM : 151670 , 246650 , 614025 , 612797 , 125853

Comment
LIPC, which is synthesized in liver, is secreted and bound to hepatocytes and hepatic endothelial surfaces via heparin sulfate proteoglycans (HSPGs). Active LIPC exists as a homodimer and has broad substrate specificity, catalyzing the hydrolysis of fatty acyl chains at the sn-1 position of phospholipids and of mono-, di-, and triacylglycerols associated with a variety of lipoproteins, including high density lipoprotein (HDL). LIPC may also facilitate binding and uptake of lipoproteins and selective uptake of cholesteryl esters from lipoproteins (summary by Brown et al., 2004). (from OMIM) A Deficiency of HL is characterized by abnormally triglyceride-rich low and high density lipoproteins as well as beta-migrating very low density lipoproteins. Familial human hepatic lipase deficiency is a rare recessive disorder that results from mutation in position 405 of the mature protein. The disease is characterised by premature atherosclerosis and abnormal circulating lipoproteins.

References (48)

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Gene_locus related to this paper: human-LIPC

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Gene_locus related to this paper: human-LIPC

Title : Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension - Kokubo_2006_Hypertens.Res_29_611
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Gene_locus related to this paper: human-LIPC

Title : Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency - Ruel_2005_Arterioscler.Thromb.Vasc.Biol_25_2600
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Gene_locus related to this paper: human-LIPC

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Gene_locus related to this paper: human-LIPC

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Gene_locus related to this paper: human-LIPC

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Title : Hepatic lipase promoter activity is reduced by the C-480T and G-216A substitutions present in the common LIPC gene variant, and is increased by Upstream Stimulatory Factor - Botma_2001_Atherosclerosis_154_625
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Gene_locus related to this paper: human-LIPC

Title : Association of the C-514T polymorphism in the hepatic lipase gene with variations in lipoprotein subclass profiles: The Framingham Offspring Study - Couture_2000_Arterioscler.Thromb.Vasc.Biol_20_815
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Title : A hepatic lipase gene promoter polymorphism attenuates the increase in hepatic lipase activity with increasing intra-abdominal fat in women - Carr_1999_Arterioscler.Thromb.Vasc.Biol_19_2701
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Gene_locus related to this paper: human-LIPC

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Gene_locus related to this paper: human-LIPC

Title : Common C-to-T substitution at position -480 of the hepatic lipase promoter associated with a lowered lipase activity in coronary artery disease patients - Jansen_1997_Arterioscler.Thromb.Vasc.Biol_17_2837
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Abstract :
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Abstract :
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Gene_locus related to this paper: human-LIPC

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Gene_locus related to this paper: human-LIPC

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PubMedID:

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Gene_locus related to this paper: human-LIPC

Title : Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase - Datta_1988_J.Biol.Chem_263_1107
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Gene_locus related to this paper: human-LIPC

Title : Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21 - Sparkes_1987_Genomics_1_138
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Title : Familial hepatic lipase deficiency -
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Title : Deficiency of hepatic lipase activity in post-heparin plasma in familial hyper-alpha-triglyceridemia - Carlson_1986_Acta.Med.Scand_219_435
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Abstract :
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Title : Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase -
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Ref : Atherosclerosis , 45 :161 , 1982
PubMedID: 6961921