Hepatic lipase
| Lipase, hepatic | |||||||||
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| Identifiers | |||||||||
| Symbols | LIPC ; HL; HTGL; LIPH | ||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 199 | ||||||||
| EC number | 3.1.1.3 | ||||||||
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| RNA expression pattern | |||||||||
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| More reference expression data | |||||||||
| Orthologs | |||||||||
| Template:GNF Ortholog box | |||||||||
| Species | Human | Mouse | |||||||
| Entrez | n/a | n/a | |||||||
| Ensembl | n/a | n/a | |||||||
| UniProt | n/a | n/a | |||||||
| RefSeq (mRNA) | n/a | n/a | |||||||
| RefSeq (protein) | n/a | n/a | |||||||
| Location (UCSC) | n/a | n/a | |||||||
| PubMed search | n/a | n/a | |||||||
Hepatic lipase is a form of lipase. It is expressed in the liver and adrenal glands.[1]
LIPC encodes hepatic triglyceride lipase, which is expressed in liver. LIPC has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake.[2]
Clinical significance
Hepatic lipase deficiency is a rare, autosomal recessive disorder that results in elevated high density lipoprotein (HDL) cholesterol due to a mutation in the hepatic lipase gene. Clinical features are not well understood and there are no characteristic xanthomas. There is an association with a delay in atherosclerosis in an animal model.[3]
References
- ↑ Dichek HL, Agrawal N, El Andaloussi N, Qian K (2006). "Attenuated corticosterone response to chronic ACTH stimulation in hepatic lipase-deficient mice: evidence for a role for hepatic lipase in adrenal physiology". Am. J. Physiol. Endocrinol. Metab. 290 (5): E908–15. doi:10.1152/ajpendo.00442.2005. PMID 16368783.
- ↑ "Entrez Gene: LIPC lipase, hepatic".
- ↑ Karackattu SL, Trigatti B, Krieger M (2006). "Hepatic lipase deficiency delays atherosclerosis, myocardial infarction, and cardiac dysfunction and extends lifespan in SR-BI/apolipoprotein E double knockout mice". Arterioscler. Thromb. Vasc. Biol. 26 (3): 548–54. doi:10.1161/01.ATV.0000202662.63876.02. PMID 16397139.
Further reading
- Santamarina-Fojo S, Haudenschild C, Amar M (1998). "The role of hepatic lipase in lipoprotein metabolism and atherosclerosis". Curr. Opin. Lipidol. 9 (3): 211–9. PMID 9645503.
- Jansen H, Verhoeven AJ, Sijbrands EJ (2003). "Hepatic lipase: a pro- or anti-atherogenic protein?". J. Lipid Res. 43 (9): 1352–62. PMID 12235167.
- Zambon A, Deeb SS, Pauletto P; et al. (2003). "Hepatic lipase: a marker for cardiovascular disease risk and response to therapy". Curr. Opin. Lipidol. 14 (2): 179–89. doi:10.1097/01.mol.0000064055.08840.77. PMID 12642787.
- Hegele RA, Tu L, Connelly PW (1993). "Human hepatic lipase mutations and polymorphisms". Hum. Mutat. 1 (4): 320–4. doi:10.1002/humu.1380010410. PMID 1301939.
- Hegele RA, Vezina C, Moorjani S; et al. (1991). "A hepatic lipase gene mutation associated with heritable lipolytic deficiency". J. Clin. Endocrinol. Metab. 72 (3): 730–2. PMID 1671786.
- Hegele RA, Little JA, Connelly PW (1991). "Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency". Biochem. Biophys. Res. Commun. 179 (1): 78–84. PMID 1883393.
- Ameis D, Stahnke G, Kobayashi J; et al. (1990). "Isolation and characterization of the human hepatic lipase gene". J. Biol. Chem. 265 (12): 6552–5. PMID 2324091.
- Datta S, Luo CC, Li WH; et al. (1988). "Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase". J. Biol. Chem. 263 (3): 1107–10. PMID 2447084.
- Cai SJ, Wong DM, Chen SH, Chan L (1990). "Structure of the human hepatic triglyceride lipase gene". Biochemistry. 28 (23): 8966–71. PMID 2605236.
- Stahnke G, Sprengel R, Augustin J, Will H (1988). "Human hepatic triglyceride lipase: cDNA cloning, amino acid sequence and expression in a cultured cell line". Differentiation. 35 (1): 45–52. PMID 2828141.
- Martin GA, Busch SJ, Meredith GD; et al. (1988). "Isolation and cDNA sequence of human postheparin plasma hepatic triglyceride lipase". J. Biol. Chem. 263 (22): 10907–14. PMID 2839510.
- Sparkes RS, Zollman S, Klisak I; et al. (1988). "Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21". Genomics. 1 (2): 138–44. PMID 3692485.
- Kounnas MZ, Chappell DA, Wong H; et al. (1995). "The cellular internalization and degradation of hepatic lipase is mediated by low density lipoprotein receptor-related protein and requires cell surface proteoglycans". J. Biol. Chem. 270 (16): 9307–12. PMID 7721852.
- Mori A, Takagi A, Ikeda Y; et al. (1996). "An AvaII polymorphism in exon 5 of the human hepatic triglyceride lipase gene". Mol. Cell. Probes. 10 (4): 309–11. doi:10.1006/mcpr.1996.0040. PMID 8865179.
- Takagi A, Ikeda Y, Mori A; et al. (1996). "Identification of a BstNI polymorphism in exon 9 of the human hepatic triglyceride lipase gene". Mol. Cell. Probes. 10 (4): 313–4. doi:10.1006/mcpr.1996.0041. PMID 8865180.
- Choi SY, Goldberg IJ, Curtiss LK, Cooper AD (1998). "Interaction between ApoB and hepatic lipase mediates the uptake of ApoB-containing lipoproteins". J. Biol. Chem. 273 (32): 20456–62. PMID 9685400.
- Cargill M, Altshuler D, Ireland J; et al. (1999). "Characterization of single-nucleotide polymorphisms in coding regions of human genes". Nat. Genet. 22 (3): 231–8. doi:10.1038/10290. PMID 10391209.
- Tiebel O, Gehrisch S, Pietzsch J; et al. (2000). "18 bp insertion/duplication with internal missense mutation in human hepatic lipase gene exon 3. Mutations in brief no. 181. Online". Hum. Mutat. 12 (3): 216. PMID 10660332.
- Yamakawa-Kobayashi K, Somekawa Y, Fujimura M; et al. (2002). "Relation of the -514C/T polymorphism in the hepatic lipase gene to serum HDL and LDL cholesterol levels in postmenopausal women under hormone replacement therapy". Atherosclerosis. 162 (1): 17–21. PMID 11947893.
External links
- hepatic+lipase,+human at the US National Library of Medicine Medical Subject Headings (MeSH)