Gene Locus : human-LIPC
Mode of mutation : Natural mutant
Disease : Hepatic triglyceride lipase Deficiency
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 :
pL356F Leu356Phe c.1068A>C (pL334F Leu334Phe in the mature protein without the 22 amino-acids of signal peptide) rs3829462 also Compound heterozygote with R208H or T405M
| 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 : Hepatic lipase deficiency in a Middle-Eastern-Arabic male. - Al Riyami_2010_BMJ.Case.Rep__ |
| Author(s) : Al Riyami N , Al-Ali AM , Al-Sarraf AJ , Hill J , Sachs-Barrable K , Hegele R , Wasan KM , Frohlich J |
| Ref : BMJ Case Rep , : , 2010 |
| Abstract : |
| PubMedSearch : Al Riyami_2010_BMJ.Case.Rep__ |
| PubMedID: 22798447 |
| Gene_locus related to this paper: human-LIPC |
| Title : Two novel mutations and functional analyses of the CETP and LIPC genes underlying severe hyperalphalipoproteinemia - Plengpanich_2009_Metabolism_58_1178 |
| Author(s) : Plengpanich W , Siriwong S , Khovidhunkit W |
| Ref : Metabolism , 58 :1178 , 2009 |
| Abstract : |
| PubMedSearch : Plengpanich_2009_Metabolism_58_1178 |
| PubMedID: 19428034 |
| Gene_locus related to this paper: human-LIPC |
| Title : Lipoprotein metabolism in subjects with hepatic lipase deficiency - Tilly-Kiesi_2004_Metabolism_53_520 |
| Author(s) : Tilly-Kiesi M , Schaefer EJ , Knudsen P , Welty FK , Dolnikowski GG , Taskinen MR , Lichtenstein AH |
| Ref : Metabolism , 53 :520 , 2004 |
| Abstract : |
| PubMedSearch : Tilly-Kiesi_2004_Metabolism_53_520 |
| PubMedID: 15045702 |
| Title : Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors - Morabia_2003_Hum.Mol.Genet_12_2733 |
| Author(s) : Morabia A , Cayanis E , Costanza MC , Ross BM , Flaherty MS , Alvin GB , Das K , Gilliam TC |
| Ref : Hum Mol Genet , 12 :2733 , 2003 |
| Abstract : |
| PubMedSearch : Morabia_2003_Hum.Mol.Genet_12_2733 |
| PubMedID: 12966036 |
| Gene_locus related to this paper: human-LIPC |
| Title : Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene - Knudsen_1997_Atherosclerosis_128_165 |
| Author(s) : Knudsen P , Antikainen M , Uusi-Oukari M , Ehnholm S , Lahdenpera S , Bensadoun A , Funke H , Wiebusch H , Assmann G , Taskinen MR , Ehnholm C |
| Ref : Atherosclerosis , 128 :165 , 1997 |
| Abstract : |
| PubMedSearch : Knudsen_1997_Atherosclerosis_128_165 |
| PubMedID: 9050773 |
| Gene_locus related to this paper: human-LIPC |