Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The LIPE gene encodes a hormone-sensitive lipase. Two forms are translated from the same mRNA. The long form is expressed in steroidogenic tissues and the short form is faound in adipose tissue. Mutations cause hypertriglyceridemia.
| 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 |
Hypertriglyceridemia
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APOA5
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APOE
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Combined lipase deficiency
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LMF1
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GPIHBP1
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LIPC
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LIPE
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LPL
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Plasma triglyceride level quantitative trait locus
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ANGPTL4
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Transient infantile hypertriglyceridemia
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GPD1
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Combined familial hyperlipidemia with adipose tissue dysfunction
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C5AR2
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CREB3L3
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LEPR
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LIPE
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PNPLA2
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PPARG
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USF1
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| 1. |
Osuga J et al. (2000) Targeted disruption of hormone-sensitive lipase results in male sterility and adipocyte hypertrophy, but not in obesity. 
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| 2. |
Schonk D et al. (1990) Assignment of seven genes to distinct intervals on the midportion of human chromosome 19q surrounding the myotonic dystrophy gene region.
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| 3. |
Das SK et al. (2011) Adipose triglyceride lipase contributes to cancer-associated cachexia.
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| 4. |
Holm C et al. (1988) Hormone-sensitive lipase: sequence, expression, and chromosomal localization to 19 cent-q13.3.
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| 5. |
Levitt RC et al. (1995) Mapping of the gene for hormone sensitive lipase (LIPE) to chromosome 19q13.1-->q13.2.
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| 6. |
Li Z et al. (1994) Isolation and characterization of the gene for mouse hormone-sensitive lipase.
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| 7. |
Wang S et al. (1994) Hormone-sensitive lipase maps to proximal chromosome 7 in mice and is genetically distinct from the Ad and Tub loci.
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| 8. |
Holst LS et al. (1996) Molecular cloning, genomic organization, and expression of a testicular isoform of hormone-sensitive lipase.
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| 9. |
Pihlajamäki J et al. (2001) The hormone sensitive lipase gene in familial combined hyperlipidemia and insulin resistance.
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| 10. |
NCBI article NCBI 3991
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| 11. |
OMIM.ORG article Omim 151750
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| 12. |
Orphanet article Orphanet ID 444104
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| 13. |
Wikipedia article Wikipedia EN (Hormone-sensitive_lipase)
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