Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

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

Related Diseases:

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

References:

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 [^]
11.

OMIM.ORG article

Omim 151750 [^]
12.

Orphanet article

Orphanet ID 444104 [^]
13.

Wikipedia article

Wikipedia EN (Hormone-sensitive_lipase) [^]
Update: April 29, 2019