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
|
||||
|
APOA5
|
|||
|
|
APOE
|
|||
|
Combined lipase deficiency
|
|||
|
|
LMF1
|
||
|
|
GPIHBP1
|
|||
|
|
LIPC
|
|||
|
|
LIPE
|
|||
|
|
LPL
|
|||
|
|
Plasma triglyceride level quantitative trait locus
|
|||
|
|
|
ANGPTL4
|
||
|
Transient infantile hypertriglyceridemia
|
|||
|
|
|
GPD1
|
||
|
|
|
|
|
|
Combined familial hyperlipidemia with adipose tissue dysfunction
|
|||
|
|
C5AR2
|
||
|
|
CREB3L3
|
||
|
|
LEPR
|
||
|
|
LIPE
|
||
|
|
PNPLA2
|
||
|
|
PPARG
|
||
|
|
USF1
|
||
|
|
|
|
| 1. |
Osuga J et al. (2000) Targeted disruption of hormone-sensitive lipase results in male sterility and adipocyte hypertrophy, but not in obesity. 
|
| 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.
|
| 3. |
Das SK et al. (2011) Adipose triglyceride lipase contributes to cancer-associated cachexia.
|
| 4. |
Holm C et al. (1988) Hormone-sensitive lipase: sequence, expression, and chromosomal localization to 19 cent-q13.3.
|
| 5. |
Levitt RC et al. (1995) Mapping of the gene for hormone sensitive lipase (LIPE) to chromosome 19q13.1-->q13.2.
|
| 6. |
Li Z et al. (1994) Isolation and characterization of the gene for mouse hormone-sensitive lipase.
|
| 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.
|
| 8. |
Holst LS et al. (1996) Molecular cloning, genomic organization, and expression of a testicular isoform of hormone-sensitive lipase.
|
| 9. |
Pihlajamäki J et al. (2001) The hormone sensitive lipase gene in familial combined hyperlipidemia and insulin resistance.
|
| 10. |
NCBI article NCBI 3991
|
| 11. |
OMIM.ORG article Omim 151750
|
| 12. |
Orphanet article Orphanet ID 444104
|
| 13. |
Wikipedia article Wikipedia EN (Hormone-sensitive_lipase)
|
 |
Copyright © 2005-2025 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |