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.
| 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 |
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| 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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| 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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| 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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| 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 article Wikipedia EN (Hepatic_lipase)
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