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Hepatic lipase




Lipase, hepatic
Identifiers
Symbol(s) LIPC; HL; HTGL; LIPH
External IDs OMIM: 151670 MGI: 96216 Homologene: 199
EC number 3.1.1.3
RNA expression pattern

Additional recommended knowledge

More reference expression data

Orthologs
Human Mouse
Entrez 3990 15450
Ensembl ENSG00000166035 ENSMUSG00000032207
Uniprot P11150 Q3TYU0
Refseq NM_000236 (mRNA)
NP_000227 (protein)
NM_008280 (mRNA)
NP_032306 (protein)
Location Chr 15: 56.51 - 56.65 Mb Chr 9: 70.6 - 70.73 Mb
Pubmed search [1] [2]


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

  1. ^ 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.
  2. ^ Entrez Gene: LIPC lipase, hepatic.
  3. ^ 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.
 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Hepatic_lipase". A list of authors is available in Wikipedia.
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