Lipase, hormone-sensitive
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.
Genetests:
Related Diseases:
References:
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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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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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Das SK et al. (2011) Adipose triglyceride lipase contributes to cancer-associated cachexia.
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Holm C et al. (1988) Hormone-sensitive lipase: sequence, expression, and chromosomal localization to 19 cent-q13.3.
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Levitt RC et al. (1995) Mapping of the gene for hormone sensitive lipase (LIPE) to chromosome 19q13.1-->q13.2.
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Li Z et al. (1994) Isolation and characterization of the gene for mouse hormone-sensitive lipase.
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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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Holst LS et al. (1996) Molecular cloning, genomic organization, and expression of a testicular isoform of hormone-sensitive lipase.
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Pihlajamäki J et al. (2001) The hormone sensitive lipase gene in familial combined hyperlipidemia and insulin resistance.
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NCBI article
NCBI 3991
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OMIM.ORG article
Omim 151750
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Orphanet article
Orphanet ID 444104
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13. |
Wikipedia article
Wikipedia EN (Hormone-sensitive_lipase)
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Update: Aug. 14, 2020