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 : T>C substitution at nt -39, occurred in the binding site of the transcription factor Oct-1. As a result, the transcriptional activity of the mutant promoter was < 15\% of wild type
| Title : A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity - Yang_1995_Proc.Natl.Acad.Sci.U.S.A_92_4462 |
| Author(s) : Yang WS , Nevin DN , Peng R , Brunzell JD , Deeb SS |
| Ref : Proc Natl Acad Sci U S A , 92 :4462 , 1995 |
| Abstract : Yang_1995_Proc.Natl.Acad.Sci.U.S.A_92_4462 |
| ESTHER : Yang_1995_Proc.Natl.Acad.Sci.U.S.A_92_4462 |
| PubMedSearch : Yang_1995_Proc.Natl.Acad.Sci.U.S.A_92_4462 |
| PubMedID: 7753827 |