[cite journal |author=Dichek HL, Agrawal N, El Andaloussi N, Qian K |title=Attenuated corticosterone response to chronic ACTH stimulation in hepatic lipase-deficient mice: evidence for a role for hepatic lipase in adrenal physiology |journal=Am. J. Physiol. Endocrinol. Metab. |volume=290 |issue=5 |pages=E908–15 |year=2006 |pmid=16368783 |doi=10.1152/ajpendo.00442.2005] ] PBB_Summary
section_title =
summary_text = 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. [cite web | title = Entrez Gene: LIPC lipase, hepatic| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3990| accessdate = ]
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.[cite journal |author=Karackattu SL, Trigatti B, Krieger M |title=Hepatic lipase deficiency delays atherosclerosis, myocardial infarction, and cardiac dysfunction and extends lifespan in SR-BI/apolipoprotein E double knockout mice |journal=Arterioscler. Thromb. Vasc. Biol. |volume=26 |issue=3 |pages=548–54 |year=2006 |pmid=16397139 |doi=10.1161/01.ATV.0000202662.63876.02] ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Santamarina-Fojo S, Haudenschild C, Amar M |title=The role of hepatic lipase in lipoprotein metabolism and atherosclerosis. |journal=Curr. Opin. Lipidol. |volume=9 |issue= 3 |pages= 211–9 |year= 1998 |pmid= 9645503 |doi=
*cite journal | author=Jansen H, Verhoeven AJ, Sijbrands EJ |title=Hepatic lipase: a pro- or anti-atherogenic protein? |journal=J. Lipid Res. |volume=43 |issue= 9 |pages= 1352–62 |year= 2003 |pmid= 12235167 |doi=
*cite journal | author=Zambon A, Deeb SS, Pauletto P, "et al." |title=Hepatic lipase: a marker for cardiovascular disease risk and response to therapy. |journal=Curr. Opin. Lipidol. |volume=14 |issue= 2 |pages= 179–89 |year= 2003 |pmid= 12642787 |doi= 10.1097/01.mol.0000064055.08840.77
*cite journal | author=Hegele RA, Tu L, Connelly PW |title=Human hepatic lipase mutations and polymorphisms. |journal=Hum. Mutat. |volume=1 |issue= 4 |pages= 320–4 |year= 1993 |pmid= 1301939 |doi= 10.1002/humu.1380010410
*cite journal | author=Hegele RA, Vezina C, Moorjani S, "et al." |title=A hepatic lipase gene mutation associated with heritable lipolytic deficiency. |journal=J. Clin. Endocrinol. Metab. |volume=72 |issue= 3 |pages= 730–2 |year= 1991 |pmid= 1671786 |doi=
*cite journal | author=Hegele RA, Little JA, Connelly PW |title=Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency. |journal=Biochem. Biophys. Res. Commun. |volume=179 |issue= 1 |pages= 78–84 |year= 1991 |pmid= 1883393 |doi=
*cite journal | author=Ameis D, Stahnke G, Kobayashi J, "et al." |title=Isolation and characterization of the human hepatic lipase gene. |journal=J. Biol. Chem. |volume=265 |issue= 12 |pages= 6552–5 |year= 1990 |pmid= 2324091 |doi=
*cite journal | author=Datta S, Luo CC, Li WH, "et al." |title=Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase. |journal=J. Biol. Chem. |volume=263 |issue= 3 |pages= 1107–10 |year= 1988 |pmid= 2447084 |doi=
*cite journal | author=Cai SJ, Wong DM, Chen SH, Chan L |title=Structure of the human hepatic triglyceride lipase gene. |journal=Biochemistry |volume=28 |issue= 23 |pages= 8966–71 |year= 1990 |pmid= 2605236 |doi=
*cite journal | author=Stahnke G, Sprengel R, Augustin J, Will H |title=Human hepatic triglyceride lipase: cDNA cloning, amino acid sequence and expression in a cultured cell line. |journal=Differentiation |volume=35 |issue= 1 |pages= 45–52 |year= 1988 |pmid= 2828141 |doi=
*cite journal | author=Martin GA, Busch SJ, Meredith GD, "et al." |title=Isolation and cDNA sequence of human postheparin plasma hepatic triglyceride lipase. |journal=J. Biol. Chem. |volume=263 |issue= 22 |pages= 10907–14 |year= 1988 |pmid= 2839510 |doi=
*cite journal | author=Sparkes RS, Zollman S, Klisak I, "et al." |title=Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21. |journal=Genomics |volume=1 |issue= 2 |pages= 138–44 |year= 1988 |pmid= 3692485 |doi=
*cite journal | author=Kounnas MZ, Chappell DA, Wong H, "et al." |title=The cellular internalization and degradation of hepatic lipase is mediated by low density lipoprotein receptor-related protein and requires cell surface proteoglycans. |journal=J. Biol. Chem. |volume=270 |issue= 16 |pages= 9307–12 |year= 1995 |pmid= 7721852 |doi=
*cite journal | author=Mori A, Takagi A, Ikeda Y, "et al." |title=An AvaII polymorphism in exon 5 of the human hepatic triglyceride lipase gene. |journal=Mol. Cell. Probes |volume=10 |issue= 4 |pages= 309–11 |year= 1996 |pmid= 8865179 |doi= 10.1006/mcpr.1996.0040
*cite journal | author=Takagi A, Ikeda Y, Mori A, "et al." |title=Identification of a BstNI polymorphism in exon 9 of the human hepatic triglyceride lipase gene. |journal=Mol. Cell. Probes |volume=10 |issue= 4 |pages= 313–4 |year= 1996 |pmid= 8865180 |doi= 10.1006/mcpr.1996.0041
*cite journal | author=Choi SY, Goldberg IJ, Curtiss LK, Cooper AD |title=Interaction between ApoB and hepatic lipase mediates the uptake of ApoB-containing lipoproteins. |journal=J. Biol. Chem. |volume=273 |issue= 32 |pages= 20456–62 |year= 1998 |pmid= 9685400 |doi=
*cite journal | author=Cargill M, Altshuler D, Ireland J, "et al." |title=Characterization of single-nucleotide polymorphisms in coding regions of human genes. |journal=Nat. Genet. |volume=22 |issue= 3 |pages= 231–8 |year= 1999 |pmid= 10391209 |doi= 10.1038/10290
*cite journal | author=Tiebel O, Gehrisch S, Pietzsch J, "et al." |title=18 bp insertion/duplication with internal missense mutation in human hepatic lipase gene exon 3. Mutations in brief no. 181. Online. |journal=Hum. Mutat. |volume=12 |issue= 3 |pages= 216 |year= 2000 |pmid= 10660332 |doi=
*cite journal | author=Yamakawa-Kobayashi K, Somekawa Y, Fujimura M, "et al." |title=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. |journal=Atherosclerosis |volume=162 |issue= 1 |pages= 17–21 |year= 2002 |pmid= 11947893 |doi=
External links
*
PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes