Lipase, Lipoprotein (LIPD)

LPL; Lipoprotein Lipase

SPN	W417
HGNC	6677
MGI	96820
PubMed	12454259
RGD	3017
UniProt	P06858
Wiki	LPL

Lipoprotein lipase (EC 3.1.1.34) is an enzyme which hydrolyzes lipids in lipoproteins, like those found in chylomicrons and very low density lipoproteins (VLDL), into three free fatty acids and one glycerol molecule. It requires Apo-CII as a cofactor. Lipoprotein lipase is specifically found in endothelial cells lining the capillaries.

Insulin is known to enhance LPL synthesis in adipocytes and its placement in the capillary endothelium. LPL has different isozymes in different tissues. The form that is in adipocytes is activated by insulin, whereas that in muscle and myocardium is not. This helps to explain why adipose cells gain fat in a well-fed state.A number sign is used with this entry because type I hyperlipoproteinemia can be caused by mutation in the lipoprotein lipase gene (LPL).

Reference

"Human lipoprotein lipase complementary DNA sequence."
Science 235:1638-1641(1987) [PubMed] [Europe PMC] [Abstract]

"Nucleotide sequence of human cDNA coding for a lipoprotein lipase (LPL) cloned from placental cDNA library."
Nucleic Acids Res. 17:2351-2352(1989) [PubMed] [Europe PMC] [Abstract]

"DNA sequence of lipoprotein lipase cDNA cloned from human monocytic leukemia THP-1 cells."
Nucleic Acids Res. 18:6436-6436(1990) [PubMed] [Europe PMC] [Abstract]

"The lipoprotein lipase-encoding human gene: sequence from intron-6 to intron-9 and presence in intron-7 of a 40-million-year-old Alu sequence."
Gene 110:257-261(1992) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Characterization of the human lipoprotein lipase (LPL) promoter: evidence of two cis-regulatory regions, LP-alpha and LP-beta, of importance for the differentiation-linked induction of the LPL gene during adipogenesis."
Mol. Cell. Biol. 12:4622-4633(1992) [PubMed] [Europe PMC] [Abstract]

"Rapid and simple isolation procedure for lipoprotein lipase from human milk."
Biochim. Biophys. Acta 1044:20-25(1990) [PubMed] [Europe PMC] [Abstract]

"Heparin-binding defective lipoprotein lipase is unstable and causes abnormalities in lipid delivery to tissues."
J. Clin. Invest. 107:1183-1192(2001) [PubMed] [Europe PMC] [Abstract]

"Normal binding of lipoprotein lipase, chylomicrons, and apo-AV to GPIHBP1 containing a G56R amino acid substitution."
Biochim. Biophys. Acta 1771:1464-1468(2007) [PubMed] [Europe PMC] [Abstract]

"Identification of N-linked glycoproteins in human milk by hydrophilic interaction liquid chromatography and mass spectrometry."
Proteomics 8:3833-3847(2008) [PubMed] [Europe PMC] [Abstract]

"Lipoprotein lipase. Molecular model based on the pancreatic lipase X-ray structure: consequences for heparin binding and catalysis."
J. Biol. Chem. 269:4626-4633(1994) [PubMed] [Europe PMC] [Abstract]

"Genetic variants affecting human lipoprotein and hepatic lipases."
Curr. Opin. Lipidol. 2:104-109(1991)

"Compound heterozygote for lipoprotein lipase deficiency: Ser-->Thr244 and transition in 3' splice site of intron 2 (AG-->AA) in the lipoprotein lipase gene."
Am. J. Hum. Genet. 47:721-726(1990) [PubMed] [Europe PMC] [Abstract]

"Missense mutation (Gly-->Glu188) of human lipoprotein lipase imparting functional deficiency."
J. Biol. Chem. 265:5910-5916(1990) [PubMed] [Europe PMC] [Abstract]

"A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries."
J. Clin. Invest. 86:728-734(1990) [PubMed] [Europe PMC] [Abstract]

"Lipoprotein lipase Bethesda: a single amino acid substitution (Ala-176-->Thr) leads to abnormal heparin binding and loss of enzymic activity."
Proc. Natl. Acad. Sci. U.S.A. 87:3474-3478(1990) [PubMed] [Europe PMC] [Abstract]

"Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome."
J. Biol. Chem. 266:473-477(1991) [PubMed] [Europe PMC] [Abstract]

"Catalytic triad residue mutation (Asp156-->Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447-->Ter) in a Turkish family."
J. Biol. Chem. 266:14418-14424(1991) [PubMed] [Europe PMC] [Abstract]

"Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene."
J. Clin. Invest. 87:1165-1170(1991) [PubMed] [Europe PMC] [Abstract]

"Amino acid substitution (Ile194-->Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin."
J. Clin. Invest. 87:2005-2011(1991) [PubMed] [Europe PMC] [Abstract]

"Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency."
J. Clin. Invest. 88:1856-1864(1991) [PubMed] [Europe PMC] [Abstract]

"A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians."
N. Engl. J. Med. 324:1761-1766(1991) [PubMed] [Europe PMC] [Abstract]

"A missense mutation (Trp86-->Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia."
Am. J. Hum. Genet. 50:1275-1280(1992) [PubMed] [Europe PMC] [Abstract]

"A missense mutation Pro157Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity."
Eur. J. Biochem. 208:267-272(1992) [PubMed] [Europe PMC] [Abstract]

"A missense mutation (Asp250-->Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries."
Genomics 13:649-653(1992) [PubMed] [Europe PMC] [Abstract]

"Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis."
J. Biol. Chem. 267:1918-1923(1992) [PubMed] [Europe PMC] [Abstract]

"Human lipoprotein lipase. Analysis of the catalytic triad by site-directed mutagenesis of Ser-132, Asp-156, and His-241."
J. Biol. Chem. 267:4161-4165(1992) [PubMed] [Europe PMC] [Abstract]

"Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization."
J. Biol. Chem. 267:20132-20139(1992) [PubMed] [Europe PMC] [Abstract]

"A missense (Asp250-->Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency."
J. Lipid Res. 33:745-754(1992) [PubMed] [Europe PMC] [Abstract]

"Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes."
J. Lipid Res. 33:1823-1832(1992) [PubMed] [Europe PMC] [Abstract]

"A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia."
Biochem. Biophys. Res. Commun. 191:1046-1054(1993) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia)."
Genomics 18:392-396(1993) [PubMed] [Europe PMC] [Abstract]

"Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene."
J. Clin. Invest. 91:1953-1958(1993) [PubMed] [Europe PMC] [Abstract]

"Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes."
J. Clin. Invest. 92:203-211(1993) [PubMed] [Europe PMC] [Abstract]

"Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154-->Ser substitution in lipoprotein lipase."
J. Lipid Res. 34:2109-2119(1993) [PubMed] [Europe PMC] [Abstract]

"A new Italian case of lipoprotein lipase deficiency: a Leu365-> Val change resulting in loss of enzyme activity."
Biochem. Biophys. Res. Commun. 199:570-576(1994) [PubMed] [Europe PMC] [Abstract]

"A naturally occurring mutation at the second base of codon asparagine 43 in the proposed N-linked glycosylation site of human lipoprotein lipase: in vivo evidence that asparagine 43 is essential for catalysis and secretion."
Biochem. Biophys. Res. Commun. 205:506-515(1994) [PubMed] [Europe PMC] [Abstract]

"Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries."
Hum. Mutat. 3:52-58(1994) [PubMed] [Europe PMC] [Abstract]

"A compound heterozygote for lipoprotein lipase deficiency, Val69-->Leu and Gly188-->Glu: correlation between in vitro LPL activity and clinical expression."
J. Lipid Res. 35:438-445(1994) [PubMed] [Europe PMC] [Abstract]

"High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform."
J. Lipid Res. 35:1066-1075(1994) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia."
J. Lipid Res. 35:1552-1560(1994) [PubMed] [Europe PMC] [Abstract]

"A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis."
Nat. Genet. 10:28-34(1995) [PubMed] [Europe PMC] [Abstract]

"A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase."
Biochem. Biophys. Res. Commun. 227:189-194(1996) [PubMed] [Europe PMC] [Abstract]

"Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia."
Eur. J. Clin. Invest. 26:631-639(1996) [PubMed] [Europe PMC] [Abstract]

"Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia."
Hum. Mutat. 8:381-383(1996) [PubMed] [Europe PMC] [Abstract]

"A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia."
Hum. Mutat. 8:392-392(1996) [PubMed] [Europe PMC] [Abstract]

"Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His)."
J. Lipid Res. 37:651-661(1996) [PubMed] [Europe PMC] [Abstract]

"Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene."
N. Engl. J. Med. 335:848-854(1996) [PubMed] [Europe PMC] [Abstract]

"A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry."
Hum. Mutat. 10:179-185(1997) [PubMed] [Europe PMC] [Abstract]

"Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy."
Hum. Mutat. 10:465-473(1997) [PubMed] [Europe PMC] [Abstract]

"Assessment of French patients with LPL deficiency for French Canadian mutations."
J. Med. Genet. 34:672-675(1997) [PubMed] [Europe PMC] [Abstract]

"Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event."
Am. J. Med. Genet. 78:313-316(1998) [PubMed] [Europe PMC] [Abstract]

"A novel Glu421Lys substitution in the lipoprotein lipase gene in pregnancy-induced hypertriglyceridemic pancreatitis."
Clin. Chim. Acta 269:1-12(1998) [PubMed] [Europe PMC] [Abstract]

"Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LPL) as a cause of chylomicronemia."
Hum. Mutat. 12:217-217(1998) [PubMed] [Europe PMC] [Abstract]

"Common genetic variants of lipoprotein lipase and apolipoproteins AI-CIII that relate to coronary artery disease: a study in Chinese and European subjects."
Mol. Genet. Metab. 64:177-183(1998) [PubMed] [Europe PMC] [Abstract]

"DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene."
Nat. Genet. 19:233-240(1998) [PubMed] [Europe PMC] [Abstract]

"Characterization of single-nucleotide polymorphisms in coding regions of human genes."
Nat. Genet. 22:231-238(1999) [PubMed] [Europe PMC] [Abstract]

Erratum
Nat. Genet. 23:373-373(1999)

"A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency."
Biochim. Biophys. Acta 1502:433-446(2000) [PubMed] [Europe PMC] [Abstract]

"A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia."
Clin. Sci. 99:569-578(2000) [PubMed] [Europe PMC] [Abstract]

"Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->Trp, associated with recurrent severe pancreatitis."
J. Clin. Endocrinol. Metab. 85:4795-4798(2000) [PubMed] [Europe PMC] [Abstract]

"Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23."
J. Lipid Res. 41:734-741(2000) [PubMed] [Europe PMC] [Abstract]

"Novel compound heterozygous mutations for lipoprotein lipase deficiency. A G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5' splice site mutation of intron 8."
J. Lipid Res. 42:1072-1081(2001) [PubMed] [Europe PMC] [Abstract]

"Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia."
Hum. Mutat. 20:232-233(2002) [PubMed] [Europe PMC] [Abstract]

"Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis."
Eur. J. Clin. Invest. 33:216-222(2003) [PubMed] [Europe PMC] [Abstract]

"Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors."
Hum. Mol. Genet. 12:2733-2743(2003) [PubMed] [Europe PMC] [Abstract]

"Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method."
Clin. Genet. 65:158-161(2004) [PubMed] [Europe PMC] [Abstract]

"Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study."
Eur. J. Pediatr. 163:462-466(2004) [PubMed] [Europe PMC] [Abstract]

"Mutations in Japanese subjects with primary hyperlipidemia -- results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996."
J. Atheroscler. Thromb. 11:131-145(2004) [PubMed] [Europe PMC] [Abstract]

"Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency."
J. Inherit. Metab. Dis. 28:137-140(2005) [PubMed] [Europe PMC] [Abstract]