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.R270H Arg270His c.809G>A (R243H Arg243His in the mature protein which do not count signal peptide ) also found with S474X and associated with mutation in APOA5 S19W rs118204062
| Title : Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants - Hu_2024_Lipids.Health.Dis_23_92 |
| Author(s) : Hu Y , Chen JM , Zuo H , Pu N , Zhang G , Duan Y , Li G , Tong Z , Li W , Li B , Yang Q |
| Ref : Lipids Health Dis , 23 :92 , 2024 |
| Abstract : Hu_2024_Lipids.Health.Dis_23_92 |
| ESTHER : Hu_2024_Lipids.Health.Dis_23_92 |
| PubMedSearch : Hu_2024_Lipids.Health.Dis_23_92 |
| PubMedID: 38561841 |
| Gene_locus related to this paper: human-LPL |
| Title : Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency - Xia_2023_J.Clin.Lipidol__ |
| Author(s) : Xia Y , Zheng W , Du T , Gong Z , Liang L , Wang R , Yang Y , Zhang K , Lu D , Chen X , Sun Y , Xiao B , Qiu W |
| Ref : J Clin Lipidol , : , 2023 |
| Abstract : Xia_2023_J.Clin.Lipidol__ |
| ESTHER : Xia_2023_J.Clin.Lipidol__ |
| PubMedSearch : Xia_2023_J.Clin.Lipidol__ |
| PubMedID: 37858495 |
| 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 : Ariza_2020_Clin.Chim.Acta_500_163 |
| ESTHER : Ariza_2020_Clin.Chim.Acta_500_163 |
| PubMedSearch : Ariza_2020_Clin.Chim.Acta_500_163 |
| PubMedID: 31669931 |
| 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 : Murase_2017_J.Clin.Lipidol_11_1383 |
| ESTHER : Murase_2017_J.Clin.Lipidol_11_1383 |
| PubMedSearch : Murase_2017_J.Clin.Lipidol_11_1383 |
| PubMedID: 28958672 |
| Gene_locus related to this paper: human-LPL |
| Title : Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride - Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| Author(s) : Buonuomo PS , Rabacchi C , Macchiaiolo M , Trenti C , Fasano T , Tarugi P , Bartuli A , Bertolini S , Calandra S |
| Ref : J Clin Lipidol , 11 :1329 , 2017 |
| Abstract : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| ESTHER : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| PubMedSearch : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| PubMedID: 28951076 |
| Gene_locus related to this paper: human-LIPC , human-LPL |
| Title : Clinical, biochemical and molecular analysis of two infants with familial chylomicronemia syndrome - Zhang_2016_Lipids.Health.Dis_15_88 |
| Author(s) : Zhang Y , Zhou J , Zheng W , Lan Z , Huang Z , Yang Q , Liu C , Gao R |
| Ref : Lipids Health Dis , 15 :88 , 2016 |
| Abstract : Zhang_2016_Lipids.Health.Dis_15_88 |
| ESTHER : Zhang_2016_Lipids.Health.Dis_15_88 |
| PubMedSearch : Zhang_2016_Lipids.Health.Dis_15_88 |
| PubMedID: 27153815 |
| Gene_locus related to this paper: human-LPL |
| 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 : Rabacchi_2015_Atherosclerosis_241_79 |
| ESTHER : Rabacchi_2015_Atherosclerosis_241_79 |
| PubMedSearch : Rabacchi_2015_Atherosclerosis_241_79 |
| PubMedID: 25966443 |
| Gene_locus related to this paper: human-LPL |
| Title : Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996 - Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| Author(s) : Maruyama T , Yamashita S , Matsuzawa Y , Bujo H , Takahashi K , Saito Y , Ishibashi S , Ohashi K , Shionoiri F , Gotoda T , Yamada N , Kita T |
| Ref : J Atheroscler Thromb , 11 :131 , 2004 |
| Abstract : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| ESTHER : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| PubMedSearch : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| PubMedID: 15256764 |
| Title : Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event - Henderson_1998_Am.J.Med.Genet_78_313 |
| Author(s) : Henderson HE , Bijvoet SM , Mannens MA , Bruin T , Erkelens DW , Hayden MR , Kastelein JJ |
| Ref : American Journal of Medicine Genet , 78 :313 , 1998 |
| Abstract : Henderson_1998_Am.J.Med.Genet_78_313 |
| ESTHER : Henderson_1998_Am.J.Med.Genet_78_313 |
| PubMedSearch : Henderson_1998_Am.J.Med.Genet_78_313 |
| PubMedID: 9714430 |
| Title : Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries - Ma_1994_Hum.Mutat_3_52 |
| Author(s) : Ma Y , Liu MS , Chitayat D , Bruin T , Beisiegel U , Benlian P , Foubert L , De Gennes JL , Funke H , Forsythe I , Blaichman S , Papanikolaou M , Erkelens DW , Kastelein J , Brunzell JD , Hayden MR |
| Ref : Hum Mutat , 3 :52 , 1994 |
| Abstract : Ma_1994_Hum.Mutat_3_52 |
| ESTHER : Ma_1994_Hum.Mutat_3_52 |
| PubMedSearch : Ma_1994_Hum.Mutat_3_52 |
| PubMedID: 7906986 |
| Title : Functional characterization of a chimeric lipase genetically engineered from human lipoprotein lipase and human hepatic lipase - Dichek_1993_J.Lipid.Res_34_1393 |
| Author(s) : Dichek HL , Parrott C , Ronan R , Brunzell JD , Brewer HB, Jr. , Santamarina-Fojo S |
| Ref : J Lipid Res , 34 :1393 , 1993 |
| Abstract : Dichek_1993_J.Lipid.Res_34_1393 |
| ESTHER : Dichek_1993_J.Lipid.Res_34_1393 |
| PubMedSearch : Dichek_1993_J.Lipid.Res_34_1393 |
| PubMedID: 8409770 |
| Title : A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency - Ishimura-Oka_1992_J.Lipid.Res_33_745 |
| Author(s) : Ishimura-Oka K , Semenkovich CF , Faustinella F , Goldberg IJ , Shachter N , Smith LC , Coleman T , Hide WA , Brown WV , Oka K , et al. |
| Ref : J Lipid Res , 33 :745 , 1992 |
| Abstract : Ishimura-Oka_1992_J.Lipid.Res_33_745 |
| ESTHER : Ishimura-Oka_1992_J.Lipid.Res_33_745 |
| PubMedSearch : Ishimura-Oka_1992_J.Lipid.Res_33_745 |
| PubMedID: 1619366 |
| Gene_locus related to this paper: human-LPL |
| Title : Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency - Gotoda_1991_J.Clin.Invest_88_1856 |
| Author(s) : Gotoda T , Yamada N , Kawamura M , Kozaki K , Mori N , Ishibashi S , Shimano H , Takaku F , Yazaki Y , Furuichi Y , et al. |
| Ref : J Clinical Investigation , 88 :1856 , 1991 |
| Abstract : Gotoda_1991_J.Clin.Invest_88_1856 |
| ESTHER : Gotoda_1991_J.Clin.Invest_88_1856 |
| PubMedSearch : Gotoda_1991_J.Clin.Invest_88_1856 |
| PubMedID: 1752947 |
| Gene_locus related to this paper: human-LPL |