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 :
pR208H Arg208His c.680G>A (pR186H Arg186His in the mature protein without the 22 amino-acids of signal peptide) rs200684324 Compound heterozygote with L356F
| 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 : 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 |