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.G141S Gly141Ser c.478G>A (c.421G>A) (p.G119S Gly119Ser in the mature protein without the 22 amino-acids of signal peptide) rs547384437 found in an heterozygote individual with hyperalphalipoproteinemia (HALP)
| Title : Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia - Plengpanich_2013_Clin.Chim.Acta_416_92 |
| Author(s) : Plengpanich W , Tongkobpetch S , Shotelersuk V , Le Goff W , Khovidhunkit W |
| Ref : Clinica Chimica Acta , 416 :92 , 2013 |
| Abstract : |
| PubMedSearch : Plengpanich_2013_Clin.Chim.Acta_416_92 |
| PubMedID: 23219720 |
| Gene_locus related to this paper: human-LIPC |
| Title : Resequencing CETP, LIPC and LIPG genes in Thai subjects with hyperalphalipoproteinemia - Khovidhunkit_2012_Am.J.Cardiol_110_62 |
| Author(s) : Khovidhunkit W , Chartyingcharoen P , Siriwong S , Limumpornpetch P , Plengpanich W |
| Ref : American Journal of Cardiology , 110 :62 , 2012 |
| Abstract : |
| PubMedSearch : Khovidhunkit_2012_Am.J.Cardiol_110_62 |
| PubMedID: 22464213 |
| 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 |