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.Glu269Lys E269K (Glu242Lys E242K in the mature protein which do not count signal peptide) found also as a compound heterozygote homozygote for M1I mutation Yu 2006 et al.
| 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 : |
| PubMedSearch : Xia_2023_J.Clin.Lipidol__ |
| PubMedID: 37858495 |
| Gene_locus related to this paper: human-LPL |
| Title : Orlistat response to missense mutations in lipoprotein lipase - Chen_2017_Biotechnol.Appl.Biochem_64_464 |
| Author(s) : Chen H , Jia J , Ni Z , Vastermark A , Wu B , Le Y , Jawad U |
| Ref : Biotechnol Appl Biochem , 64 :464 , 2017 |
| Abstract : |
| PubMedSearch : Chen_2017_Biotechnol.Appl.Biochem_64_464 |
| PubMedID: 27097985 |
| Title : A Chinese patient with recurrent pancreatitis during pregnancy induced by hypertriglyceridemia associated with compound heterozygosity (Glu242Lys and Leu252VaL) in the lipoprotein lipase gene - Liu_2016_J.Clin.Lipidol_10_199 |
| Author(s) : Liu Y , Lun Y , Lv W , Hou X , Wang Y |
| Ref : J Clin Lipidol , 10 :199 , 2016 |
| Abstract : |
| PubMedSearch : Liu_2016_J.Clin.Lipidol_10_199 |
| PubMedID: 26892137 |
| Title : A novel substitution at the translation initiator codon (ATG-->ATC) of the lipoprotein lipase gene is mainly responsible for lipoprotein lipase deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis - Yu_2006_Biochem.Biophys.Res.Commun_341_82 |
| Author(s) : Yu XH , Zhao TQ , Wang L , Liu ZP , Zhang CM , Chen R , Li L , Liu G , Hu WC |
| Ref : Biochemical & Biophysical Research Communications , 341 :82 , 2006 |
| Abstract : |
| PubMedSearch : Yu_2006_Biochem.Biophys.Res.Commun_341_82 |
| PubMedID: 16431216 |
| Gene_locus related to this paper: human-LPL |
| 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 : Pathogenic mutations of the lipoprotein lipase gene in Chinese patients with hypertriglyceridemic type 2 diabetes - Yang_2003_Hum.Mutat_21_453 |
| Author(s) : Yang T , Pang CP , Tsang MW , Lam CW , Poon PM , Chan LY , Wu XQ , Tomlinson B , Baum L |
| Ref : Hum Mutat , 21 :453 , 2003 |
| Abstract : |
| PubMedSearch : Yang_2003_Hum.Mutat_21_453 |
| PubMedID: 12655575 |
| Title : [A gene analysis of familial lipoprotein lipase deficiency in China] - Shen_1999_Zhonghua.Yi.Xue.Yi.Chuan.Xue.Za.Zhi_16_233 |
| Author(s) : Shen J , Chen R , Hu W , Bingshen KE , Li L , Du Y , Liu Y |
| Ref : Zhonghua Yi Xue Yi Chuan Xue Za Zhi , 16 :233 , 1999 |
| Abstract : |
| PubMedSearch : Shen_1999_Zhonghua.Yi.Xue.Yi.Chuan.Xue.Za.Zhi_16_233 |
| PubMedID: 10431049 |