Gene Locus : human-LPL
Mode of mutation : Natural mutant
Disease : Hyperlipoproteinemia TypeI
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.Gly215Glu G215E GGG->GAG(G188E Gly188Glu in the mature protein which do not count signal peptide) mutation in exon5. Exon 5 is also the region with the strongest homology to pancreatic and hepatic lipase and is conserved in LPL from different species. Found also in compound heterozygote with the mutation P234L or D277N
| Title : Clinical characterization and mutation spectrum of patients with hypertriglyceridemia in a German outpatient clinic - Bardey_2024_J.Lipid.Res__100589 |
| Author(s) : Bardey F , Rieck L , Spira D , Marz W , Binner P , Schwab S , Kleber ME , Danyel M , Barkowski R , Bobbert T , Spranger J , Steinhagen-Thiessen E , Demuth I , Kassner U |
| Ref : J Lipid Res , :100589 , 2024 |
| Abstract : |
| PubMedSearch : Bardey_2024_J.Lipid.Res__100589 |
| PubMedID: 38969064 |
| Gene_locus related to this paper: human-LPL |
| Title : Genetic variants in the LPL and GPIHBP1 genes, in patients with severe hypertriglyceridaemia, detected with high resolution melting analysis - Ariza_2020_Clin.Chim.Acta_500_163 |
| Author(s) : Ariza MJ , Perez-Lopez C , Almagro F , Sanchez-Tevar AM , Muniz-Grijalvo O , Alvarez-Sala Walter LA , Rioja J , Sanchez-Chaparro MA , Valdivielso P |
| Ref : Clinica Chimica Acta , 500 :163 , 2020 |
| Abstract : |
| PubMedSearch : Ariza_2020_Clin.Chim.Acta_500_163 |
| PubMedID: 31669931 |
| Gene_locus related to this paper: human-LPL |
| Title : Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia - Caddeo_2018_Nutr.Metab.Cardiovasc.Dis_28_158 |
| Author(s) : Caddeo A , Mancina RM , Pirazzi C , Russo C , Sasidharan K , Sandstedt J , Maurotti S , Montalcini T , Pujia A , Leren TP , Romeo S , Pingitore P |
| Ref : Nutr Metab Cardiovasc Dis , 28 :158 , 2018 |
| Abstract : |
| PubMedSearch : Caddeo_2018_Nutr.Metab.Cardiovasc.Dis_28_158 |
| PubMedID: 29288010 |
| Gene_locus related to this paper: human-LPL |
| Title : Severe hypertriglyceridemia in Japan: Differences in causes and therapeutic responses - Murase_2017_J.Clin.Lipidol_11_1383 |
| Author(s) : Murase T , Okubo M , Ebara T , Mori Y |
| Ref : J Clin Lipidol , 11 :1383 , 2017 |
| Abstract : |
| PubMedSearch : Murase_2017_J.Clin.Lipidol_11_1383 |
| PubMedID: 28958672 |
| Gene_locus related to this paper: human-LPL |
| Title : Homozygous LPL p.Gly188Glu Mutation in a Mexican Girl With Lipoprotein Lipase Deficiency - |
| Author(s) : Colima Fausto AG , Gonzalez Garcia JR , Hernandez Flores TJ , Vazquez Cardenas NA , Solis Perales NE , Magana Torres MT |
| Ref : Ann Lab Med , 37 :355 , 2017 |
| PubMedID: 28445021 |
| Title : High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency - Tani_2016_Atherosclerosis_253_7 |
| Author(s) : Tani M , Horvath KV , Lamarche B , Couture P , Burnett JR , Schaefer EJ , Asztalos BF |
| Ref : Atherosclerosis , 253 :7 , 2016 |
| Abstract : |
| PubMedSearch : Tani_2016_Atherosclerosis_253_7 |
| PubMedID: 27573733 |
| Title : Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia - Rabacchi_2015_Atherosclerosis_241_79 |
| Author(s) : Rabacchi C , Pisciotta L , Cefalu AB , Noto D , Fresa R , Tarugi P , Averna M , Bertolini S , Calandra S |
| Ref : Atherosclerosis , 241 :79 , 2015 |
| Abstract : |
| PubMedSearch : Rabacchi_2015_Atherosclerosis_241_79 |
| PubMedID: 25966443 |
| Gene_locus related to this paper: human-LPL |
| Title : Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency - Martin-Campos_2014_Clin.Chim.Acta_429_61 |
| Author(s) : Martin-Campos JM , Julve J , Roig R , Martinez S , Errico TL , Martinez-Couselo S , Escola-Gil JC , Mendez-Gonzalez J , Blanco-Vaca F |
| Ref : Clinica Chimica Acta , 429 :61 , 2014 |
| Abstract : |
| PubMedSearch : Martin-Campos_2014_Clin.Chim.Acta_429_61 |
| PubMedID: 24291057 |
| Gene_locus related to this paper: human-LPL |
| Title : Genotype-phenotype relationships in patients with type I hyperlipoproteinemia - Chokshi_2014_J.Clin.Lipidol_8_287 |
| Author(s) : Chokshi N , Blumenschein SD , Ahmad Z , Garg A |
| Ref : J Clin Lipidol , 8 :287 , 2014 |
| Abstract : |
| PubMedSearch : Chokshi_2014_J.Clin.Lipidol_8_287 |
| PubMedID: 24793350 |
| Gene_locus related to this paper: human-LPL |
| Title : Apolipoprotein B-100-containing lipoprotein metabolism in subjects with lipoprotein lipase gene mutations - Ooi_2012_Arterioscler.Thromb.Vasc.Biol_32_459 |
| Author(s) : Ooi EM , Russell BS , Olson E , Sun SZ , Diffenderfer MR , Lichtenstein AH , Keilson L , Barrett PH , Schaefer EJ , Sprecher DL |
| Ref : Arterioscler Thromb Vasc Biol , 32 :459 , 2012 |
| Abstract : |
| PubMedSearch : Ooi_2012_Arterioscler.Thromb.Vasc.Biol_32_459 |
| PubMedID: 22095987 |
| Title : A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis - Ebara_2007_Clin.Chim.Acta_386_100 |
| Author(s) : Ebara T , Endo Y , Yoshiike S , Tsuji M , Taguchi S , Murase T , Okubo M |
| Ref : Clinica Chimica Acta , 386 :100 , 2007 |
| Abstract : |
| PubMedSearch : Ebara_2007_Clin.Chim.Acta_386_100 |
| PubMedID: 17854791 |
| Gene_locus related to this paper: human-LPL |
| Title : Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650) - Wang_2007_Arterioscler.Thromb.Vasc.Biol_27_2450 |
| Author(s) : Wang J , Cao H , Ban MR , Kennedy BA , Zhu S , Anand S , Yusuf S , Pollex RL , Hegele RA |
| Ref : Arterioscler Thromb Vasc Biol , 27 :2450 , 2007 |
| Abstract : |
| PubMedSearch : Wang_2007_Arterioscler.Thromb.Vasc.Biol_27_2450 |
| PubMedID: 17717288 |
| Gene_locus related to this paper: human-LPL |
| Title : Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency - Santer_2005_J.Inherit.Metab.Dis_28_137 |
| Author(s) : Santer R , Gokcay G , Demirkol M , Gal A , Lukacs Z |
| Ref : J Inherit Metab Dis , 28 :137 , 2005 |
| Abstract : |
| PubMedSearch : Santer_2005_J.Inherit.Metab.Dis_28_137 |
| PubMedID: 15877202 |
| Title : Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study - Kavazarakis_2004_Eur.J.Pediatr_163_462 |
| Author(s) : Kavazarakis E , Stabouli S , Gourgiotis D , Roumeliotou K , Traeger-Synodinos J , Bossios A , Fretzayas A , Kanavakis E |
| Ref : Eur J Pediatr , 163 :462 , 2004 |
| Abstract : |
| PubMedSearch : Kavazarakis_2004_Eur.J.Pediatr_163_462 |
| PubMedID: 15185149 |
| Title : [Mutation-function analysis in the lipoprotein lipase gene of Chinese patients with hypertriglyceridemic type 2 diabetes] - Yang_2003_Zhongguo.Yi.Xue.Ke.Xue.Yuan.Xue.Bao_25_134 |
| Author(s) : Yang T , Lam CW , Tsang MW , Chan LY , Poon PM , Huang SZ , Pang CP |
| Ref : Zhongguo Yi Xue Ke Xue Yuan Xue Bao , 25 :134 , 2003 |
| Abstract : |
| PubMedSearch : Yang_2003_Zhongguo.Yi.Xue.Ke.Xue.Yuan.Xue.Bao_25_134 |
| PubMedID: 12905705 |
| Title : Genetics of the lipoprotein lipase gene and hypertriglyceridaemia - McDonnell_2003_Br.J.Biomed.Sci_60_84 |
| Author(s) : McDonnell MG , Young IS , Nicholls DP , Archbold GP , Graham CA |
| Ref : Br J Biomed Sci , 60 :84 , 2003 |
| Abstract : |
| PubMedSearch : McDonnell_2003_Br.J.Biomed.Sci_60_84 |
| PubMedID: 12866915 |
| Title : Insulin sensitivity is impaired in heterozygous carriers of lipoprotein lipase deficiency - Holzl_2002_Diabetologia_45_378 |
| Author(s) : Holzl B , Iglseder B , Sandhofer A , Malaimare L , Lang J , Paulweber B , Sandhofer F |
| Ref : Diabetologia , 45 :378 , 2002 |
| Abstract : |
| PubMedSearch : Holzl_2002_Diabetologia_45_378 |
| PubMedID: 11914743 |
| Title : Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene - Peterson_2002_J.Lipid.Res_43_398 |
| Author(s) : Peterson J , Ayyobi AF , Ma Y , Henderson H , Reina M , Deeb SS , Santamarina-Fojo S , Hayden MR , Brunzell JD |
| Ref : J Lipid Res , 43 :398 , 2002 |
| Abstract : |
| PubMedSearch : Peterson_2002_J.Lipid.Res_43_398 |
| PubMedID: 11893776 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 \% are clustered in exons 5 and 6 - Gilbert_2001_Ann.Genet_44_25 |
| Author(s) : Gilbert B , Rouis M , Griglio S , de Lumley L , Laplaud P |
| Ref : Ann Genet , 44 :25 , 2001 |
| Abstract : |
| PubMedSearch : Gilbert_2001_Ann.Genet_44_25 |
| PubMedID: 11334614 |
| Title : A Japanese patient with lipoprotein lipase deficiency homozygous for the Gly188Glu mutation prevalent worldwide - Yoshida_2000_J.Atheroscler.Thromb_7_45 |
| Author(s) : Yoshida T , Gotoda T , Okubo M , Iizuka Y , Ishibashi S , Kojima T , Murakami T , Murase T , Yamada N |
| Ref : J Atheroscler Thromb , 7 :45 , 2000 |
| Abstract : |
| PubMedSearch : Yoshida_2000_J.Atheroscler.Thromb_7_45 |
| PubMedID: 11425044 |
| Gene_locus related to this paper: human-LPL |
| Title : Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a cause of chylomicronemia. Mutations in brief no. 183. Online - Evans_1998_Hum.Mutat_12_217 |
| Author(s) : Evans D , Wendt D , Ahle S , Guerra A , Beisiegel U |
| Ref : Hum Mutat , 12 :217 , 1998 |
| Abstract : |
| PubMedSearch : Evans_1998_Hum.Mutat_12_217 |
| PubMedID: 10660334 |
| Gene_locus related to this paper: human-LPL |
| Title : Assessment of French patients with LPL deficiency for French Canadian mutations - Foubert_1997_J.Med.Genet_34_672 |
| Author(s) : Foubert L , De Gennes JL , Lagarde JP , Ehrenborg E , Raisonnier A , Girardet JP , Hayden MR , Benlian P |
| Ref : Journal of Medical Genetics , 34 :672 , 1997 |
| Abstract : |
| PubMedSearch : Foubert_1997_J.Med.Genet_34_672 |
| PubMedID: 9279761 |
| Title : Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy - Mailly_1997_Hum.Mutat_10_465 |
| Author(s) : Mailly F , Palmen J , Muller DP , Gibbs T , Lloyd J , Brunzell J , Durrington P , Mitropoulos K , Betteridge J , Watts G , Lithell H , Angelico F , Humphries SE , Talmud PJ |
| Ref : Hum Mutat , 10 :465 , 1997 |
| Abstract : |
| PubMedSearch : Mailly_1997_Hum.Mutat_10_465 |
| PubMedID: 9401010 |
| Title : Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene - Benlian_1996_N.Engl.J.Med_335_848 |
| Author(s) : Benlian P , De Gennes JL , Foubert L , Zhang H , Gagne SE , Hayden M |
| Ref : N Engl J Med , 335 :848 , 1996 |
| Abstract : |
| PubMedSearch : Benlian_1996_N.Engl.J.Med_335_848 |
| PubMedID: 8778602 |
| Gene_locus related to this paper: human-LPL |
| Title : Higher triglycerides, lower high-density lipoprotein cholesterol, and higher systolic blood pressure in lipoprotein lipase-deficient heterozygotes. A preliminary report - Sprecher_1996_Circulation_94_3239 |
| Author(s) : Sprecher DL , Harris BV , Stein EA , Bellet PS , Keilson LM , Simbartl LA |
| Ref : Circulation , 94 :3239 , 1996 |
| Abstract : |
| PubMedSearch : Sprecher_1996_Circulation_94_3239 |
| PubMedID: 8989135 |
| Title : Lipoprotein lipase deficiency due to a 3' splice site mutation in intron 6 of the lipoprotein lipase gene - Holzl_1994_J.Lipid.Res_35_2161 |
| Author(s) : Holzl B , Huber R , Paulweber B , Patsch JR , Sandhofer F |
| Ref : J Lipid Res , 35 :2161 , 1994 |
| Abstract : |
| PubMedSearch : Holzl_1994_J.Lipid.Res_35_2161 |
| PubMedID: 7897314 |
| Gene_locus related to this paper: human-LPL |
| Title : A compound heterozygote for lipoprotein lipase deficiency, Val69-->\;Leu and Gly188-->\;Glu: correlation between in vitro LPL activity and clinical expression - Bruin_1994_J.Lipid.Res_35_438 |
| Author(s) : Bruin T , Tuzgol S , Mulder WJ , van den Ende AE , Jansen H , Hayden MR , Kastelein JJ |
| Ref : J Lipid Res , 35 :438 , 1994 |
| Abstract : |
| PubMedSearch : Bruin_1994_J.Lipid.Res_35_438 |
| PubMedID: 7912254 |
| Title : Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization - Hata_1992_J.Biol.Chem_267_20132 |
| Author(s) : Hata A , Ridinger DN , Sutherland SD , Emi M , Kwong LK , Shuhua J , Lubbers A , Guy-Grand B , Basdevant A , Iverius PH , et al. |
| Ref : Journal of Biological Chemistry , 267 :20132 , 1992 |
| Abstract : |
| PubMedSearch : Hata_1992_J.Biol.Chem_267_20132 |
| PubMedID: 1400331 |
| Gene_locus related to this paper: human-LPL |
| Title : Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes - Reina_1992_J.Lipid.Res_33_1823 |
| Author(s) : Reina M , Brunzell JD , Deeb SS |
| Ref : J Lipid Res , 33 :1823 , 1992 |
| Abstract : |
| PubMedSearch : Reina_1992_J.Lipid.Res_33_1823 |
| PubMedID: 1479292 |
| Gene_locus related to this paper: human-LPL |
| Title : The lipoprotein lipase Gly188----Glu mutation in South Africans of Indian descent: evidence suggesting common origins and an increased frequency - Henderson_1992_J.Med.Genet_29_119 |
| Author(s) : Henderson HE , Hassan F , Berger GM , Hayden MR |
| Ref : Journal of Medical Genetics , 29 :119 , 1992 |
| Abstract : |
| PubMedSearch : Henderson_1992_J.Med.Genet_29_119 |
| PubMedID: 1351946 |
| Title : Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia - Paulweber_1991_Atherosclerosis_86_239 |
| Author(s) : Paulweber B , Wiebusch H , Miesenboeck G , Funke H , Assmann G , Hoelzl B , Sippl MJ , Friedl W , Patsch JR , Sandhofer F |
| Ref : Atherosclerosis , 86 :239 , 1991 |
| Abstract : |
| PubMedSearch : Paulweber_1991_Atherosclerosis_86_239 |
| PubMedID: 1872917 |
| Title : Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency - Emi_1990_J.Biol.Chem_265_5910 |
| Author(s) : Emi M , Wilson DE , Iverius PH , Wu L , Hata A , Hegele R , Williams RR , Lalouel JM |
| Ref : Journal of Biological Chemistry , 265 :5910 , 1990 |
| Abstract : |
| PubMedSearch : Emi_1990_J.Biol.Chem_265_5910 |
| PubMedID: 1969408 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene - Emi_1990_Am.J.Hum.Genet_47_107 |
| Author(s) : Emi M , Hata A , Robertson M , Iverius PH , Hegele R , Lalouel JM |
| Ref : American Journal of Human Genetics , 47 :107 , 1990 |
| Abstract : |
| PubMedSearch : Emi_1990_Am.J.Hum.Genet_47_107 |
| PubMedID: 2349938 |
| Gene_locus related to this paper: human-LPL |
| Title : 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 - Monsalve_1990_J.Clin.Invest_86_728 |
| Author(s) : Monsalve MV , Henderson H , Roederer G , Julien P , Deeb S , Kastelein JJ , Peritz L , Devlin R , Bruin T , Murthy MR , et al. |
| Ref : J Clinical Investigation , 86 :728 , 1990 |
| Abstract : |
| PubMedSearch : Monsalve_1990_J.Clin.Invest_86_728 |
| PubMedID: 1975597 |
| Gene_locus related to this paper: human-LPL |
| Title : Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation - Wilson_1990_J.Clin.Invest_86_735 |
| Author(s) : Wilson DE , Emi M , Iverius PH , Hata A , Wu LL , Hillas E , Williams RR , Lalouel JM |
| Ref : J Clinical Investigation , 86 :735 , 1990 |
| Abstract : |
| PubMedSearch : Wilson_1990_J.Clin.Invest_86_735 |
| PubMedID: 2394828 |
| Title : Phenotypic heterogeneity in the extended pedigree of a proband with lipoprotein lipase deficiency - Wilson_1983_Metabolism_32_1107 |
| Author(s) : Wilson DE , Edwards CQ , Chan IF |
| Ref : Metabolism , 32 :1107 , 1983 |
| Abstract : |
| PubMedSearch : Wilson_1983_Metabolism_32_1107 |
| PubMedID: 6645961 |