Hormonabhängige Lipase
Das LIPE-Gen kodiert eine hormonsensitive Lipase, die sowohl in steroidhormonbildenden Zellen, wie auch in Fettzellen vorkommt. Mutationen führen zur Hypertriglyceridämie.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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 Artikel
Wikipedia DE (Hormonsensitive_Lipase)
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Update: 14. August 2020