c-39T>C_human-LPL

General

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

References (1)

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 :
PubMedSearch : Yang_1995_Proc.Natl.Acad.Sci.U.S.A_92_4462
PubMedID: 7753827