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.L279R Leu279Arg (Leu252Arg L252R in the mature protein) c.836T>G rs35414700
| 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 : A non-integrated iPSC line (SDQLCHi042-A) from a boy suffering from familial combined hyperlipidemia with compound heterozygous mutations of lipoprotein lipase gene - Li_2021_Stem.Cell.Res_53_102313 |
| Author(s) : Li Z , Zhang X , Li X , Yang Y , Xin H , Yang X , Liu N , Gai Z , Liu Y |
| Ref : Stem Cell Res , 53 :102313 , 2021 |
| Abstract : Li_2021_Stem.Cell.Res_53_102313 |
| ESTHER : Li_2021_Stem.Cell.Res_53_102313 |
| PubMedSearch : Li_2021_Stem.Cell.Res_53_102313 |
| PubMedID: 34087978 |
| Gene_locus related to this paper: human-LPL |
| Title : Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases - Wu_2021_BMC.Pediatr_21_414 |
| Author(s) : Wu YQ , Hu YY , Li GN |
| Ref : BMC Pediatr , 21 :414 , 2021 |
| Abstract : Wu_2021_BMC.Pediatr_21_414 |
| ESTHER : Wu_2021_BMC.Pediatr_21_414 |
| PubMedSearch : Wu_2021_BMC.Pediatr_21_414 |
| PubMedID: 34544385 |
| Gene_locus related to this paper: human-LPL |
| Title : Rare LPL gene missense mutation in an infant with hypertriglyceridemia - Qin_2018_J.Clin.Lab.Anal_32_e22414 |
| Author(s) : Qin YY , Wei AQ , Shan QW , Xian XY , Wu YY , Liao L , Yan J , Lai ZF , Lin FQ |
| Ref : J Clin Lab Anal , 32 :e22414 , 2018 |
| Abstract : Qin_2018_J.Clin.Lab.Anal_32_e22414 |
| ESTHER : Qin_2018_J.Clin.Lab.Anal_32_e22414 |
| PubMedSearch : Qin_2018_J.Clin.Lab.Anal_32_e22414 |
| PubMedID: 29479812 |
| Gene_locus related to this paper: 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 : Rare and common variants in LPL and APOA5 in Thai subjects with severe hypertriglyceridemia: A resequencing approach - Khovidhunkit_2016_J.Clin.Lipidol_10_505 |
| Author(s) : Khovidhunkit W , Charoen S , Kiateprungvej A , Chartyingcharoen P , Muanpetch S , Plengpanich W |
| Ref : J Clin Lipidol , 10 :505 , 2016 |
| Abstract : Khovidhunkit_2016_J.Clin.Lipidol_10_505 |
| ESTHER : Khovidhunkit_2016_J.Clin.Lipidol_10_505 |
| PubMedSearch : Khovidhunkit_2016_J.Clin.Lipidol_10_505 |
| PubMedID: 27206937 |
| Gene_locus related to this paper: human-LPL |
| Title : A novel lipoprotein lipase gene missense mutation in Chinese patients with severe hypertriglyceridemia and pancreatitis - Chen_2014_Lipids.Health.Dis_13_52 |
| Author(s) : Chen TZ , Xie SL , Jin R , Huang ZM |
| Ref : Lipids Health Dis , 13 :52 , 2014 |
| Abstract : Chen_2014_Lipids.Health.Dis_13_52 |
| ESTHER : Chen_2014_Lipids.Health.Dis_13_52 |
| PubMedSearch : Chen_2014_Lipids.Health.Dis_13_52 |
| PubMedID: 24646025 |
| Gene_locus related to this paper: human-LPL |
| Title : Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia - Chan_2002_Hum.Mutat_20_232 |
| Author(s) : Chan LY , Lam CW , Mak YT , Tomlinson B , Tsang MW , Baum L , Masarei JR , Pang CP |
| Ref : Hum Mutat , 20 :232 , 2002 |
| Abstract : Chan_2002_Hum.Mutat_20_232 |
| ESTHER : Chan_2002_Hum.Mutat_20_232 |
| PubMedSearch : Chan_2002_Hum.Mutat_20_232 |
| PubMedID: 12204001 |
| Gene_locus related to this paper: human-LPL |
| Title : High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform - Ma_1994_J.Lipid.Res_35_1066 |
| Author(s) : Ma Y , Ooi TC , Liu MS , Zhang H , McPherson R , Edwards AL , Forsythe IJ , Frohlich J , Brunzell JD , Hayden MR |
| Ref : J Lipid Res , 35 :1066 , 1994 |
| Abstract : Ma_1994_J.Lipid.Res_35_1066 |
| ESTHER : Ma_1994_J.Lipid.Res_35_1066 |
| PubMedSearch : Ma_1994_J.Lipid.Res_35_1066 |
| PubMedID: 8077845 |