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 :
p.T405M Tht405Met c.1271C>T (p.T383M Tht383Met in the mature protein without the 22 amino-acids of signal peptide) rs113298164 also Compound heterozygote with L356F
| Title : The Contribution of GWAS Loci in Familial Dyslipidemias - Ripatti_2016_PLoS.Genet_12_e1006078 |
| Author(s) : Ripatti P , Ramo JT , Soderlund S , Surakka I , Matikainen N , Pirinen M , Pajukanta P , Sarin AP , Service SK , Laurila PP , Ehnholm C , Salomaa V , Wilson RK , Palotie A , Freimer NB , Taskinen MR , Ripatti S |
| Ref : PLoS Genet , 12 :e1006078 , 2016 |
| Abstract : |
| PubMedSearch : Ripatti_2016_PLoS.Genet_12_e1006078 |
| PubMedID: 27227539 |
| Gene_locus related to this paper: human-LIPC |
| Title : Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency - Ruel_2005_Arterioscler.Thromb.Vasc.Biol_25_2600 |
| Author(s) : Ruel IL , Lamarche B , Mauger JF , Badellino KO , Cohn JS , Marcil M , Couture P |
| Ref : Arterioscler Thromb Vasc Biol , 25 :2600 , 2005 |
| Abstract : |
| PubMedSearch : Ruel_2005_Arterioscler.Thromb.Vasc.Biol_25_2600 |
| PubMedID: 16224048 |
| 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 : The role of hepatic lipase in lipoprotein metabolism - Connelly_1999_Clin.Chim.Acta_286_243 |
| Author(s) : Connelly PW |
| Ref : Clinica Chimica Acta , 286 :243 , 1999 |
| Abstract : |
| PubMedSearch : Connelly_1999_Clin.Chim.Acta_286_243 |
| PubMedID: 10511296 |
| Title : Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency - Hegele_1991_Biochem.Biophys.Res.Commun_179_78 |
| Author(s) : Hegele RA , Little JA , Connelly PW |
| Ref : Biochemical & Biophysical Research Communications , 179 :78 , 1991 |
| Abstract : |
| PubMedSearch : Hegele_1991_Biochem.Biophys.Res.Commun_179_78 |
| PubMedID: 1883393 |