Hepatische Lipase
Das LIPC-Gen kodiert die hepatische Lipase. Ein Enzym, das nicht nur an der Hydrolyse der Triglyceride vornimmt, sondern auch an an der Aufnahme der Lipoproteine beteiligt ist. Mutationen führen zur Hypertriglyceridämie.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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
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19. |
NCBI article
NCBI 3990
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20. |
OMIM.ORG article
Omim 151670
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21. |
Wikipedia Artikel
Wikipedia DE (Hepatische_Triglycerid-Lipase)
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Update: 14. August 2020